In May of 2012 I challenged myself to post one new thing about Hemochromatosis every day on my Facebook wall. This was a way to push myself to learn, so some of the earlier posts may seem less informed than the later posts. These are sequenced in order of their posting, rather than backwards as is typical of a blog. I have also attempted to clean up and test all links. Please let me know if any are broken!
May 2012 HH Notes:
May is Hemochromatosis awareness month! In 500BC my ancestor in the western Danube valley had a mutation which made her less likely to die in childbirth and more able to survive disease and plagues. 13% of all people carry at least one of her genes even though it centers mostly on those of Northern European descent. Still doctors were taught it was rare and are not likely to look for it. Now that people live longer, this mutation makes us diabetic, have early heart issues, messes up our liver whether we drink or not, causes early arthritis and severe depression. It also makes strokes and cancer far worse. And the cure is so easy as long as it is caught early. Don't let your doctor ignore this if you have these symptoms or diseases!
Hemochromatosis Awareness: On Hemmingway - "How did hemochromatosis kill Hemingway? By causing toxic levels of iron to accumulate in his joints and organs bringing pain, diabetes, cirrhosis of the liver, heart disease, and depression. That depression is more than just being unhappy because your body is damaged and your health is failing. That toxic iron accumulation plays its own role in affecting mood and brain function. Sadly, suicide is an all-too-common outcome of undiagnosed hemochromatosis."
http://celticcurse.org/hemingways-death-and-hemochromatosis-awareness/
Hemochromatosis is NOT a disease. It is a trait like blue eyes or red hair. It simply makes it so we do not produce Hepcidin. Hepcidin is a liver enzyme that prevents the body from storing iron when digesting food or recycling blood cells. Most people produce it when their liver iron stores are high. It is possible that carriers (meaning all of my family) produce less hepcidin than normal. (I bet Dr. Martina Muckenthaler will know this soon) Doctors and Big Pharma are currently trying to find a way to medically induce Hemochromatosis as a way to help patients with chronic disease and other causes of anemia.
Hemochromatosis is a genetic condition, but it is frequently used interchangeably with Iron Overload which is a disease. Iron Overload is almost certain for those with Hemochromatosis who do not donate blood. This iron-mediated disease process has been implicated in multiple metabolic disorders, the worsening of many disease conditions, and premature death and disability. A summary of several iron overload affected diseases and conditions follows:
Atherosclerosis and other cardiovascular diseases
Metabolic syndrome
Cancer (multiple visceral types)
Type 2 diabetes and related microvascular damage leading to end stage kidney disease
Osteoporosis and osteopenia
Hepatocellular cancinoma with or without cirrhosis of the liver
Sarcopenia (muscle wasting)
Hepatitis C virus
Non-alcoholic fatty liver disease (NAFLD)
Non-alcoholic steatohepatitis (NASH)
Alzheimer's and other neurodegenerative diseases
A simple genetic test was discovered in the late 90s. Those of Celtic/Viking descent should have this test done especially if they are related to someone with Hemochromatosis. Test are available online for $230 with no prescription required:http://www.healthcheckusa.com/Hereditary-Hemochromatosis-DNA-Test-Kit/46879/
Hemochromatosis and The Pill. The birth control pill is sometimes prescribed to help prevent anemia. What is good for helping anemia is very bad for hemochromatosis. Since 1% of all people have Hemochromatosis, it should be tested for before going on the pill or at the very least the correct tests should be done annually while on it. Up until recent years doctors were taught that this was a rare condition in general, but even more so in women under 50. Those doctors would be more likely to point to POCS than do the right tests for iron overload symptoms in a woman on the pill. Delay in treatment of iron overload is deadly and the third leading cause of death in our country is medical error. Doctors do not know everything and we need them to know that the right test to order not just a CBC, but a basic iron panel as well. http://www.irondisorders.org/tests-to-determine-iron-levels/ From just a pure hemochromatosis point of view, women choosing to use birth control and who have hemochromatosis should consider an IUD. This should be discussed with your doctor, though they are not likely to have thought of it before.
How common is Hemochromatosis really? In the US, Canada, Northern Europe and Austrailia/New Zealand, about 1 in 100 to 1 in 400 have Hemochromatosis and about 10% are carriers. It is essentially unknown in the rest of the world. Generally, the more Irish/Viking your family is, the higher that number is. So one could suspect 1% of people in Chicago and a quarter of that in Miami, for example. This gets clouded by how many of these people also report iron overload symptoms which is about half. Common 'syndromes' complicate this reporting with the classic left side abdominal pain for men in their 20s getting called IBS today - do these people then self-report the symptom when asked or just shelf it and forget it as something no one can help with? And most doctors are still being taught this is a rare disorder since so much is new. The hepcidin cycle was only discovered a decade ago and the genetic test about 15 years ago. These contribute to the under-reporting, but basically for every person you know adjusting their diet for Celiac Disease you probably also know someone with Hemochromatosis.
Yesterday I talked about how common Hemochromatosis is in general. But how common is it in a family that already has someone diagnosed? My parents each at least are carriers, so my direct siblings would have a 25% chance. My aunts and uncles all have a minimum of a 50% chance of being a carrier, so my first cousins all have a 2.5% chance of having Hemochromatosis (as do my half-siblings). This changes if one assumes my dad also had it (I can give 10 reasons why I think he did without even trying), meaning his brothers and sisters have a 75% chance of at least being carriers and at least a 25% of also having Hemochromatosis. Then my first cousins on my dad's side would have at least 3.75% chance of having it. My half-siblings on my dad's side would have a 5% chance. This basically is the same as my kids because my wife has a 10% chance of being a carrier, so if she was (she is not though) then my kids would have a 50% chance of having Hemochromatosis.
Most believe that Beethoven died an early death due to too many fifths. Liver failure in your 50s leads to that assumption. Beethoven also had an unexplained stomach pain continuously from his 20s and a constant healthy tan. These are all typical of Hemochromatosis. Although there is no way to know what really killed Beethoven, this illustrates a common thread of misdiagnosis. Even ER doctors are quick to blame these symptoms on alcoholism. If the patients family says they don't drink, then it is assumed that they are just good at hiding it. The $7 iron function test is never ordered nor the $199 genetic test. Instead the patient moves on with the same issues but now wondering what their family is thinking. Studies show that the average Hemochromatosis diagnosis takes 9 years and 3 doctors. This is the most common genetic killer in the Western Hemisphere! But doctors will rarely diagnose it. Instead many of us live lives like Beethoven, die in our 50s and are presumed to have brought it upon ourselves.
Yesterday I quoted that the average amount of time it takes to diagnose Hemochromatosis is 9 years and 3 doctors. How about me? My first doctor visit was due to the classic left-side abdominal pain when I was 24. After lots of fun tests, I was told there was nothing wrong with me. I had 3 or 4 different family doctors and a variety of specialists before I was diagnosed at 39, but Katrina knew it when I was 37 based on labs we had drawn ourselves (at the 9 Health Fair here in Denver). So mine took about 15 years and close to 10 doctors and would likely have taken more if I was not married to a registered nurse. Knowing iron overload as well as I do now, I can look back over those years and know exactly how I was affected. The symptoms were all classic and should have been caught at least a decade sooner. Oh, and the doctor who made the diagnosis and ran the right tests was only 2 years out of residency at the time. Younger doctors are starting to learn that this is not a rare disease and I think are more likely to find it than doctors who graduated much before 2000.
So the two leading causes of death in the US are cancer and heart disease. And the 3rd? Doctors. Medical error kills 225,000 Americans every year and costs us more than $70 billion in unnecessary treatments. See this is why I was excited when Healthcare Reform was initially discussed, because it needs to be reformed. Increasing access to a failing system doesn't make much sense to me. Hemochromatosis figures directly into this as a significantly undiagnosed condition. I was on at least 10 unnecessary meds over the 15 years it took to diagnose me not to mention all the x-rays and scans. I know of some who even had exploratory abdominal surgery with their intestines pulled from their body - but no $7 iron panel ordered. We must keep educated and help our doctors help us. Kat ordered iron panel, understood the results, then still had to take it past 3 doctors before one did then next test and diagnosed me. Her Hyperparathyroidism was the same, where I initially suggested it to the doctor and I had to find the right course of treatment for her arguing with some of her specialists using recent study results they were unaware of. The onus is on us to have our health.http://articles.mercola.com/sites/articles/archive/2000/07/30/doctors-death-part-one.aspx
Of the many symptoms of Hemochromatosis, the least predictable is mental. Iron does not store in the brain, but somehow does affect it. Current studies are looking at Parkinsons, Alzheimers and restless leg syndrome. The ties to stroke are well defined already. Then there are mood swings and depression. Think of the big Celt warriors during the reign of Rome only feeling good if they bled on the battlefield now and again. Some I know were prone to barfights before diagnosis. The liver is considered the anger organ, so frequently we can go from calm to anger quickly and irrationally. Even as well controlled as my iron is, my family can tell when my 8 weeks is almost up and notice a difference immediately after I give a pint. Depression can be very dark, just read about the Hemmingways - this was the root of their multiple suicides. So neurological may seem minor on the list of symptoms, but it is not minor in how it affects those with it or their families.
Since the test for Hemochromatosis is easy and definitive, why doesn't the government just test everyone when they are born? This is a question many nations are discussing, especially Ireland where the percentages are higher than anywhere else in the world. The current roadblock is the percentage of reported issues. Lets say 1,000,000 Americans have the genes. Only half that currently report having symptoms. This is a pretty weak indicator when a transferrin saturation test of those reporting no symptoms might indicate that they are really still at risk or just not reporting symptoms. For now, this test is not done for everyone despite the high cost of misdiagnosis for the million or so of us who have it. This cost is a significant and preventable financial burden on our healthcare system and a significant and preventable cause of early disease and death of our citizens.
Hemochromatosis in ordinary terms can be described like this. Think of an old wooden roller coaster. That is like our blood stream. We can measure how many seats are on the ride, but it is likely that we do not want all those seats filled. An engineer will monitor the ride and decide what percentage of passenger capacity it should run at. Then a conductor will ensure that only that amount of seats is filled at any given time. With Hemochromatosis, we have no engineer or conductor (aka Hepcidin which is a liver enzyme). Who ever shows up at the park can get on our ride. So when we look at our total iron binding capacity (aka transferritin capacity) v. our serum iron (transferrin saturation) that indicates how well we are controlling iron's access to our bloodstream. If the 'ride' is over half full or so, then it starts getting damaged or loses passengers in places they shouldn't be. The 'iron passengers' getting stuck where they shouldn't be causes iron overload. By donating blood, we dump these passengers into a bag and keep our percent utilized capacity down (mine stays around 20%). This reduces the negative effect of iron for those with Hemochromatosis.
In 2008 the US Congress passed the Genetic Information Nondiscrimination Act, meaning that someone like those with Hemochromatosis cannot be discriminated against by employers or insurance companies. However, it may still be concerning topeople to have this diagnosis. Remember that only doctors can diagnose, but you do not need them to order the test. So you can order the tests without fear for around $200. If you do this and want my help with interpretation just let me know. The genetic test is pain free and will come back saying yes or no. The iron panel requires a needle stick and will give you values letting you know if they are in reference ranges or not. If you have both genes, like me, and your transferrin saturation is high then you need aggressive phlebotomy. You cannot donate more often than every 56 days without a doctor. You could do plasmapheresis more often than that if there is a provider of that near you, but if you are not A+ or B+ then the blood bank will likely insist that you give whole blood. I do not recommend attempting this without a doctor and diagnosis, but if caught early enough and you are willing to do a strict iron free diet and pay for the $7 iron panel after every donation to ensure that you are improving then it may be okay. Do not let your transferrin saturation go under 20 and the blood donation center will ensure your hematocrit stays at a safe level. There are some advantages to this approach, but if you have any symptoms that need a doctors attention then ensure you share your test results with them. Also genetic testing centers can be found which provide confidential counselling and advice on genetic matters. http://www.genome.gov/24519851
Steve McQueen died of Hemochromatosis. He also was very typical of our type. His troubled teens were likely due to mood swings and anger issues. These same traits worked well for him as a marine. His constant tan appearance helped him as a movie star. But his high bioavailability of iron definitely increased his susceptibility to cancer from limited asbestos exposure and also sped its race through his body. He fought it aggressively, but if its root cause had been diagnosed at the time he might have been saved before the experimental treatments that brought on his heart attacks. His diagnosis also would have saved his daughter. "McQueen married actress Neile Adams on November 2, 1956 (divorced 1972), by whom he had a daughter Terry (born June 5, 1959; died at 38 on March 19, 1998 as a result of hemochromatosis, a condition in which the body produces too much iron destroying the liver)"
http://www.rottentomatoes.com/celebrity/1010407-steve_mcqueen/biography.php
Much of what is discussed with Hemochromatosis is reducing iron load related issues. However, since we have no hepcidin our inflammation response is different. How different is currently being studied, but it is certain that we are more affected by inflammation than are the general population even when our iron levels are normal. Oxidation and inflammation are the two big overall causes of ill health. So, even when well controlled people with hemochromatosis should avoid inflammation challenging foods like gluten, sugar, polyunsaturated oils, transfats, dairy, feedlot raised meat, refined grains and food additives. Maybe I should say limit, because the only way to avoid all that is to live like my grandparents and only eat what you grow or raise. Also inflammatory disease will still have a greater affect on us, especially arthritis in the fingers (which may really be a type of gout). Note that inflammatory disease can include FATIGUE, DEPRESSION and MOOD SWINGS. So these are not limited to our times of high iron. Here is a good list of inflammatory diseases for which families with Hemochromatosis in them have a higher risk of encountering: http://www.progesteronetherapy.com/list-of-inflammatory-diseases.html#axzz1uwXSafZ8
Hemochromatosis and Lipitor: As discussed before, hemochromatosis is misdiagnosed 67% of the time and takes on average 9 years and 3 doctors to actually order the $7 iron panel, read it correctly and follow up with the genetic test. Not so for elevated cholesterol. Lipitor and other statins are prescribed at an alarming rate and at the first signs of 'elevated' cholesterol. Hemochromatosis will cause increased cholesterol. Remember LDL is created by the liver to heal the body - iron overload does plenty of damage - then HDL is created to clean up afterwards. Lipitor will force the liver to keep the HDL/LDL where it should be for healthy people. This means there will not be enough LDL to repair the damage that the iron is doing to the body. Also Lipitor reduces cholesterol by damaging the parts of the liver which produce enzymes in response to the body's call for help. Iron overload folks don't need any pharmaceutical assistance in damaging our livers, thanks. Taking the averages above, a person suffering with iron overload could be on Lipitor for nearly a decade before the real reason for their elevated cholesterol is found all the while doing irreparable damage to one of the most crucial organs in the body.
Hemochromatosis and the big three. The heart, pancreas and liver are the normal storage locations for iron in the body. When enough is stored there, hepcidin is produced by the liver telling the body not to digest or recycle any more iron. Those with hemochromatosis do not produce hepcidin, so they just keep sending all the iron they ingest primarily to these three organs. How much iron? The modern american diet contains much more than what is required. The RDA on labels is for women of childbearing years and not on birth control pills (18mg), the rest of us only need 8mg and even people without hemochromatosis should avoid ever having more than 45mg daily. Iron has no process of elimination and without hepcidin will just keep accumulating to the point where we can even set off alarms at airport security. Iron in the pancreas decreases its function and causes diabetes - the traditional killer in hemochromatosis. In the heart it can cause abnormal heart rhythms and early life heart attacks (men in their 40s). In the liver it will alter many body processes causing one to gain weight, bloat, fatigue, fail to process nutrients and basically just feel unwell. The iron then produces free radicals at an alarming rate at all these locations which will eventually lead to cancers and other disease. Much of this damage is completely reversible with diagnosis and treatment and of course fatal without.
Hemochromatosis and arthritis. This is known to affect carriers too! Which means most of you who are my first cousins or closer. We get a special arthritis called calcium pyrophosphate deposition disease (CPDD). It is assumed at this point that Iron within joints causes free radical generation and crystal deposition. this causes immune complex formation and inflammation. The damage from this is NOT reversible. Many of our iron overload symptoms just go away, but the damage from this pseudo-gout will not. Think of it like ice crystals forming in the joints then doing damage as the body moves. Even when the ice melts, the damage remains. CPDD can be misdiagnosed as arthritis, but if the underlying cause is hemochromatosis then no treatment will prevent further damage until hemochromatosis is diagnosed and treated. A very common presentation of this is painful handshakes due to the tendency for it to occur in the joints of the first two fingers.
Vitamin C tablets are deadly for Hemochromatosis. Food is fine, but Vitamin C supplements and food additives are different. There are two issues. The first is simply that Vit C increases iron absorption. If you already have or are fighting against iron overload, then that is not good. The second is much worse. Vit C supplements are not just an anti-oxidant, but also a pro-oxidant. This means that in the presence of iron they can create free radicals, damage white blood cells and even damage DNA. When iron is stored in the heart, it likes to go to the left ventricle. It is theorized that when vitamin C supplements react with a large storage of iron in a specific place of the heart that the massive localized creation of free radicals and white blood cell damage will CAUSE a heart attack. There is only one case study on this so far, but honestly how many ER docs are looking for this as a cause when someone comes through the door? More studies are in the works, but to be safe one should eat plenty of natural sources of vitamin C and keep supplements to under 500 mg/day from all sources. One papaya probably has more than you are getting in your tablet anyway and is much tastier. Here are some great sources: http://www.whfoods.com/genpage.php?tname=nutrient&dbid=109
Hemochromatosis and Autism. Studies are very early on this. The general population has from 1/100 to 1/400 people with hemocromatisis, however two separate genetic studies of kids diagnosed with Autism/ASD showed 30% of those kids had hemochromatosis. This does not show a link anymore than studies showing that nearly 100% of kids with autism have an engineer within two degrees of separation from them. Many studies right now are centering on whether the high iron availability in our modern diet has been one of the factors behind the surge in ASD diagnosises. This does not mean that we should keep iron from our kids, but a rational level of iron for kids is about 50% of what is on food labels. The RDA on food labels is for women of childbearing years who are not on birth control pills - 18mg/day, kids aged 1-3 should have 7 mg/day, aged 4-8 should have 10 mg/day and aged 9-13 should have 8 mg/day. Considering that a piece of white bread has 2 mg of iron and my kids favorite cereal has 4 mg of iron in 3/4 cup, exceeding this number is extremely easy. For kids with hemochromatosis, exceeding this number will cause all sorts of issues including mood swings and those of a depressed nature which could mimic or exacerbate ASD symptoms. So remember that for iron the RDA is a recommended maximum beyond which most will just stop processing and that for kids 50% of the RDA is the recommended maximum!http://www.cdc.gov/nutrition/everyone/basics/vitamins/iron.html#How much
Of Iron and Men. John Steinbeck died in New York City on December 20, 1968 of heart disease and congestive heart failure. He was 66, and had been a life-long smoker. An autopsy showed nearly complete occlusion of the main coronary arteries. We will never know how much hemochromatosis had to do with his death. However his son, also named John Steinbeck, died in 1988 four years after being diagnosed with hemochromatosis. In his book The Other Side of Eden the younger Steinbeck discusses his life and path to sobriety. His wife had to finish writing the book for him due to his early death (aged 44) which she blamed on doctors ignoring his hemochromatosis. She writes, “From the onset, and as the disease progressed, our children and I struggled with John's mood swings, violent outbursts, severe depression and anger. We were never told that those symptoms, which mimic mental illness, were part of the disease, as was his inability to communicate, sleeplessness, loss of memory and emotional withdrawal.” Her husband developed diabetes in 1990 and died in 1991 during a back operation “because the doctor neglected to take his complicated medical history into account,” she maintains. “Due to the toll HH had taken on his body, John was never an appropriate candidate for surgery.” In her opinion the doctors chose to ignore the radiologist’s recommendation for further testing, and John Steinbeck IV died on the operating table from a pulmonary embolism. To his wife, the final injustice was “a doctor who didn't have a clue about the severity of HH's effects.”
Read more: http://blogcritics.org/scitech/article/even-celebrities-are-not-immune-to/page-3/#ixzz1vVbZkZz7
Hemochromatosis testing debate: The following is from the Kaiser Permante Journal Winter of 1999. The debate still rages on, but imagine if this doctor had been properly diagnosed 32 years earlier! Imagine a hip replacement not being necessary, the years of pain, the early retirement. The full article is very interesting and concludes that it is far cheaper to test all Americans at age 18 than the mistreat those of us with Hemochromatosis for a good portion of our lives.
"Case Example: One Physician's Own Medical History
The diagnosis of clinically active hemochromatosis is easily overlooked, as illustrated by Dr. Graydon Funke, a disability-retired pediatrician from Southern California Permanente Medical Group (SCPMG) in Harbor City, California. Hoping to stimulate other physicians to be screened for this disease, Dr. Funke describes his own case:
I am now 68 years old. I had no major medical problems for the first 35 years of my life. I then developed some pain and swelling of the metacarpophalangeal joints of the index and middle fingers of both hands. I was diagnosed with gout and had uric acid levels between 6 and 11 mg/dL, and several joint taps were said to show the presence of uric acid crystals. Wrists, fingers, and toes were affected, but never a large joint. Allopurinol has prevented all acute attacks in the last 10 of the 15 years I've taken it. I was quite physically active for most of my life. By age 45, however, arthritic symptoms developed in my ankles, hands, back, and neck. I gradually became easily fatigued. I consulted with several internists and orthopedists, none of whom suggested a specific diagnosis. A brief trial of cortisone during a bike trip gave me much relief.
Once at age 59, while I was skiing, severe hip pain developed suddenly; the next year, I had a total left hip replacement. No one was certain whether I had arthritis alone or also had aseptic necrosis. Chronic atrial fibrillation developed a week after surgery, and attempts at cardioversion were never successful.
I became depressed, and my joint symptoms progressed to where I had to accept disability retirement at age 60. We moved to San Luis Obispo, and last year, at age 67, I came under the care of a local rheumatologist, Dr. Barry Eibschutz, who saw my rheumatic knuckles and said at the first visit, "I think you have hemochromatosis." My serum ferritin level was 2250 ng/mL. I had seen six internists, five rheumatologists, three orthopedists, two physiatrists, and one psychiatrist, but no practitioner--including myself--ever considered hemochromatosis.
MRI scan of my liver showed the increased density typical of iron overload. Results of my liver function tests were normal, and I chose not to have liver biopsy. I have now had 40 weekly phlebotomies of 500 mL that have reduced my serum ferritin level to 20 ng/mL. Diabetes had been developing, but my blood sugar levels are now becoming normal, perhaps owing to removal of the excess iron. My depression and fatigue have greatly improved with phlebotomy, although the arthritis has not."
http://xnet.kp.org/permanentejournal/winter99pj/hemochromatosis.html
Hemochromatosis and Cholesterol (just say no to Lipitor part 2). Cholesterol is truly elevated when it is above 260, but due to the potential that long term high normal numbers may cause hardened arteries, doctors tend to aggressively control cholesterol levels. But what about iron? In the normal population a high iron diet (as discussed before this is quite easy to achieve) is more likely to harden arteries than having high cholesterol. This sounds bad for folks like me, but the contrary is proving true. Hemochromatosis not only changes how my body processes iron, but also how it stores it. I store iron in a totally different part of my heart than others. This actually has the effect of making me essentially immune to plaque build up in my arteries. My doctor actually had me do a heart scan (due to my less than stellar family history) and confirmed that not only was there almost no plaque, but what was there was in a safe place. This means if you have hemochromatosis and your doctor wants to put you on statins (Lipitor, et al) to keep cholesterol from damaging your arteries - do not do it! All you will do is damage your liver. This is another reason for my family to be tested. Cholesterol has a purpose in the body, so artificially lowering levels when it is not possible for that to help prevent heart disease is only likely to do harm. http://circgenetics.ahajournals.org/content/2/6/652.full
Hemochromatosis and carriers. Carriers of a single gene (my mom, kids, half-siblings, 50-100% of my aunts and uncles, ~33% of my first cousins and ~12.5 of those of Celtic descent - >20% of current Irish population) should not be concerned. The primary concern would be hepcidin production and carriers have been proven to produce this just fine. It is only for people with two genes (or a particular rare compound issue on a single gene) that have hepcidin issues. But carriers do store iron differently. Remember yesterday's post about iron storage location changing risks of high cholesterol on the arteries in a iron load controlled person with hemochromatosis. This same advantage may be there for carriers without the iron overload potential this is currently being tested). Similar to sickle cell anemia where female carriers lived longer than either those who had both genes or those who had neither, hemochromatosis carriers are expected to have a genetic ADVANTAGE. This is why I hate reading that hemochromatosis is a genetic disease or defect. It is a selective advantage over the general population which allowed my family to better survive famine, war, hunting accidents, childbirth, pestilence, TB, Typhoid, Salmonella and now (potentially) high cholesterol. So carriers, all you need to remember is that you do store iron differently (not in macrophages for those of you who know chemistry) so you may not have the same risks as the general population to certain diseases. However, you and your partner should consider genetic testing to know if there is a reason to test your kids. The earlier you catch someone like me in the family, the better you can make their entire lives.
Hemochromatosis and Free Radicals. Free radicals always makes me think of Never Say Never Again when Bond tells Moneypenny that he's been assigned to eliminate all free radicals. "Oh, do be careful James!" Free radicals are caused by oxidative responses in our body and is the primary force behind most causes of death. Inflammation is the other. Iron generates free radicals which then damage our cells. They can alter DNA causing cancer or simply damage cells so they cannot do what nature intended. Those with iron overload due to hemochromatosis can generate countless free radicals waiting for doctors to diagnose them thereby causing significant harm especially to their liver, pancreas and heart. Maybe Bond should have been tested for hemochromatosis!
Hemochromatosis and disease. I have harped on doctors' lack of knowledge regarding iron metabolism and hepcidin for most of the month. To me, this is the most important reason for testing oneself. If you have genes like me, then there is still only a 50% chance that you will have iron overload issues. BUT, your responses to disease and infections are likely different than others. TB and Typhoid are not the killers they once were here, but we are immune to them. So if you have hemochromatosis and your doctor diagnoses you with TB, they are wrong. Similarly, we are immune to one rare type of pneumonia. There is a growing list of complications that your doctor will probably not know. Death from raw Gulf oysters is a very real risk to us. Death from those Listeria melons of Colorado last year was too. The linked article is quite science heavy and uses all the medical names for issues associated with higher risk in hemochromatosis. These are important for us to know, because they may be more common for us and more deadly for us. At least reading the two tables may be of interest to most. http://www.ijidonline.com/article/S1201-9712(07)00081-1/fulltext
Hemochromatosis and Bipolar Disorder. It has been proven that 1% of all patients diagnosed with Bipolar Disorder actually have hemochromatosis. For this 1% the ONLY treatment that can help them is blood donation which is shown to significantly reduce symptoms after one draw and virtually remove all symptoms after the second pint. So surely the protocol for treatment must take this into account? Yes, as a possible cause of why everything else fails. Around seven different medications and combinations may be tried first along with electro-shock therapy, magnetic pulses into the brain and hospitalization. After all this fails, then they do the $7 iron test and then the $200 gene test after which the complete cure comes in two weeks! This is a nightmare. Bipolar is a killer of relationships, careers and the patient with symptoms like: poor judgement, poor temper control, binge eating, binge drinking, drug use, promiscuity, alienating friends and family and a high risk of suicide. None of the treatment can help and in fact may do harm like increasing the severity of these symptoms, adding side effects or adding totally new issues. Do not let them put you or anyone you love through this. If you are of Celtic descent and diagnosed with bipolar disorder without being tested for hemochromatosis, then do the tests yourself. $207 vs. you marriage, family, friends, job and maybe your life ... it is worth it. If it comes back positive for both genes, find a doctor that knows what that means and have them reevaluate your medications immediately! Source: http://www.ghpjournal.com/article/S0163-8343(11)00136-8/fulltext#bb0030 More info on Bipolar Disorder:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001924/
Hemochromatosis and veterans. I wonder how many who have served our country have had their readjustment to society affected by hemochromatosis? It is common for those in the military to donate to the Red Cross. Many may also stop suddenly like my dad did due to malaria in the African Campaign in WWII. This is known to cause a rapid increase in hemochromatosis symptoms. Many of these symptoms could also be easily misdiagnosed as PTSD. Those who have seen active duty may never stop seeing those traumatic images. Like my dad seeing men walk into howitzer fire because they just could not take the bombardment anymore. How do you stop seeing that in your mind? I still think about it and I was not even there. It is normal to have those images stay with you. However, issues like those discussed yesterday related to bipolar disorder can then be confused with PTSD related to reocuring memories like these. This can lead to the same milieu of ineffective medications and unnecessary therapy when all that is really needed is blood donation. If only a percent of those who have returned to from active duty could be helped with a simple blood test, wouldn't it be worth testing them as part of PTSD treatment?
Hemochromatosis and the Liver. The liver is the number one risk of death for hemochromatosis. Hepatitis immunizations are very important as soon as diagnosis occurs. I was immunized against A, B and C. It is best to choose not to drink alcohol, but if you do then women should not exceed one drink a day and men should not exceed two drinks a day. This allows more freedom than I expected. The biggest issue to a liver is obesity. Diet plays a big role with essentially the less 'toxins' like HFCS, transfats and food additives the better. But being obese can inflammation and fibrosis (scaring) just as much as being an alcoholic can. Liver disease is rapidly moving up the list of most frequent killers of humans and for those with hemochromatosis it is even more deadly.
Hemochromatosis and the Pancreas. As I approach the last couple of days of my attempt to post something new daily on Hemochromatosis for all of May I will discuss the biggest traditional killer. Iron overload in the pancreas brings a particularly nasty type of progressive diabetes. This is the reason for the original name of Bronze Diabetes since the patients presented with bronzed skin and diabetes. Pancreas health in general is supported by a low calorie diet and maintaining a reasonable body weight. Being fat is almost as bad for the pancreas as loading it up with iron. When iron (and/or fat) reduce the pancreas's ability to respond to sugar, we become diabetic. A side effect of using insulin for diabetes is weight gain, which creates a vicious circle. Being at a normal body weight is very important for everyone, but especially for people with hemochromatosis. All three major affected organs - pancreas, liver and heart - function better with lower body fat percentages.
Hemochromatosis - final post. This is the last of 31 consecutive days of my ranting about hemochromatosis. I learned a lot and hope it provided benefit to others. The bottom line here is that it is not rare, but having it diagnosed is. When you know it exists in your family you can take matters into your own hands. Untreated hemochromatosis is fatal. But that is not the worst of it. It is fatal in very unpleasant ways. But that is not the worst of it. This can destroy relationships and lead to self destructive behavior. In essence, anything bad becomes worse. My brother died when I was 11 and my dad had a massive stroke that same year leaving him partially paralyzed for the last 23 years of his life. My life went south at that same time trying to make sense of it all. Then I watched my best friend's dad die instantly from a heart attack. I am not saying that had I known then that I had hemochromatosis and high iron that I could have changed the route my life took in response to these horrible events. But I can say it could have been different. The effect on the brain is still not just unexplained, but contrary to what psychiatry thinks they know. How this affects teenagers is unknown, but in the words of a soon to be released movie - 'If you had the chance to change your fate - would ya?'.
Okay, so I said my last post was the last on hemochromatosis... But here is one more. If you have had the genetic test and it came back negative, you may still have hemochromatosis! The genetic test will likely be updated in the next year or two to include more genes. The British Journal of Haematology just published this article. Excerpt: "Herein, we prove that both mutations partially abrogate HFE association with B2M and TFRC, crucial for its correct processing and cell surface presentation. Although E277K has a more deleterious effect than V295A, we propose that both mutations may play a role in the development of hereditary haemochromatosis." In other words, us 282s and 282/63s may have company with some 277 or 295 heterozygotes. And possibly compound homozygotes? I do not have a subscription to the BJH so can only read/post the abstract.http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2141.2012.09164.x/abstract
May 2012 HH Notes:
May is Hemochromatosis awareness month! In 500BC my ancestor in the western Danube valley had a mutation which made her less likely to die in childbirth and more able to survive disease and plagues. 13% of all people carry at least one of her genes even though it centers mostly on those of Northern European descent. Still doctors were taught it was rare and are not likely to look for it. Now that people live longer, this mutation makes us diabetic, have early heart issues, messes up our liver whether we drink or not, causes early arthritis and severe depression. It also makes strokes and cancer far worse. And the cure is so easy as long as it is caught early. Don't let your doctor ignore this if you have these symptoms or diseases!
Hemochromatosis Awareness: On Hemmingway - "How did hemochromatosis kill Hemingway? By causing toxic levels of iron to accumulate in his joints and organs bringing pain, diabetes, cirrhosis of the liver, heart disease, and depression. That depression is more than just being unhappy because your body is damaged and your health is failing. That toxic iron accumulation plays its own role in affecting mood and brain function. Sadly, suicide is an all-too-common outcome of undiagnosed hemochromatosis."
http://celticcurse.org/hemingways-death-and-hemochromatosis-awareness/
Hemochromatosis is NOT a disease. It is a trait like blue eyes or red hair. It simply makes it so we do not produce Hepcidin. Hepcidin is a liver enzyme that prevents the body from storing iron when digesting food or recycling blood cells. Most people produce it when their liver iron stores are high. It is possible that carriers (meaning all of my family) produce less hepcidin than normal. (I bet Dr. Martina Muckenthaler will know this soon) Doctors and Big Pharma are currently trying to find a way to medically induce Hemochromatosis as a way to help patients with chronic disease and other causes of anemia.
Hemochromatosis is a genetic condition, but it is frequently used interchangeably with Iron Overload which is a disease. Iron Overload is almost certain for those with Hemochromatosis who do not donate blood. This iron-mediated disease process has been implicated in multiple metabolic disorders, the worsening of many disease conditions, and premature death and disability. A summary of several iron overload affected diseases and conditions follows:
Atherosclerosis and other cardiovascular diseases
Metabolic syndrome
Cancer (multiple visceral types)
Type 2 diabetes and related microvascular damage leading to end stage kidney disease
Osteoporosis and osteopenia
Hepatocellular cancinoma with or without cirrhosis of the liver
Sarcopenia (muscle wasting)
Hepatitis C virus
Non-alcoholic fatty liver disease (NAFLD)
Non-alcoholic steatohepatitis (NASH)
Alzheimer's and other neurodegenerative diseases
A simple genetic test was discovered in the late 90s. Those of Celtic/Viking descent should have this test done especially if they are related to someone with Hemochromatosis. Test are available online for $230 with no prescription required:http://www.healthcheckusa.com/Hereditary-Hemochromatosis-DNA-Test-Kit/46879/
Hemochromatosis and The Pill. The birth control pill is sometimes prescribed to help prevent anemia. What is good for helping anemia is very bad for hemochromatosis. Since 1% of all people have Hemochromatosis, it should be tested for before going on the pill or at the very least the correct tests should be done annually while on it. Up until recent years doctors were taught that this was a rare condition in general, but even more so in women under 50. Those doctors would be more likely to point to POCS than do the right tests for iron overload symptoms in a woman on the pill. Delay in treatment of iron overload is deadly and the third leading cause of death in our country is medical error. Doctors do not know everything and we need them to know that the right test to order not just a CBC, but a basic iron panel as well. http://www.irondisorders.org/tests-to-determine-iron-levels/ From just a pure hemochromatosis point of view, women choosing to use birth control and who have hemochromatosis should consider an IUD. This should be discussed with your doctor, though they are not likely to have thought of it before.
How common is Hemochromatosis really? In the US, Canada, Northern Europe and Austrailia/New Zealand, about 1 in 100 to 1 in 400 have Hemochromatosis and about 10% are carriers. It is essentially unknown in the rest of the world. Generally, the more Irish/Viking your family is, the higher that number is. So one could suspect 1% of people in Chicago and a quarter of that in Miami, for example. This gets clouded by how many of these people also report iron overload symptoms which is about half. Common 'syndromes' complicate this reporting with the classic left side abdominal pain for men in their 20s getting called IBS today - do these people then self-report the symptom when asked or just shelf it and forget it as something no one can help with? And most doctors are still being taught this is a rare disorder since so much is new. The hepcidin cycle was only discovered a decade ago and the genetic test about 15 years ago. These contribute to the under-reporting, but basically for every person you know adjusting their diet for Celiac Disease you probably also know someone with Hemochromatosis.
Yesterday I talked about how common Hemochromatosis is in general. But how common is it in a family that already has someone diagnosed? My parents each at least are carriers, so my direct siblings would have a 25% chance. My aunts and uncles all have a minimum of a 50% chance of being a carrier, so my first cousins all have a 2.5% chance of having Hemochromatosis (as do my half-siblings). This changes if one assumes my dad also had it (I can give 10 reasons why I think he did without even trying), meaning his brothers and sisters have a 75% chance of at least being carriers and at least a 25% of also having Hemochromatosis. Then my first cousins on my dad's side would have at least 3.75% chance of having it. My half-siblings on my dad's side would have a 5% chance. This basically is the same as my kids because my wife has a 10% chance of being a carrier, so if she was (she is not though) then my kids would have a 50% chance of having Hemochromatosis.
Most believe that Beethoven died an early death due to too many fifths. Liver failure in your 50s leads to that assumption. Beethoven also had an unexplained stomach pain continuously from his 20s and a constant healthy tan. These are all typical of Hemochromatosis. Although there is no way to know what really killed Beethoven, this illustrates a common thread of misdiagnosis. Even ER doctors are quick to blame these symptoms on alcoholism. If the patients family says they don't drink, then it is assumed that they are just good at hiding it. The $7 iron function test is never ordered nor the $199 genetic test. Instead the patient moves on with the same issues but now wondering what their family is thinking. Studies show that the average Hemochromatosis diagnosis takes 9 years and 3 doctors. This is the most common genetic killer in the Western Hemisphere! But doctors will rarely diagnose it. Instead many of us live lives like Beethoven, die in our 50s and are presumed to have brought it upon ourselves.
Yesterday I quoted that the average amount of time it takes to diagnose Hemochromatosis is 9 years and 3 doctors. How about me? My first doctor visit was due to the classic left-side abdominal pain when I was 24. After lots of fun tests, I was told there was nothing wrong with me. I had 3 or 4 different family doctors and a variety of specialists before I was diagnosed at 39, but Katrina knew it when I was 37 based on labs we had drawn ourselves (at the 9 Health Fair here in Denver). So mine took about 15 years and close to 10 doctors and would likely have taken more if I was not married to a registered nurse. Knowing iron overload as well as I do now, I can look back over those years and know exactly how I was affected. The symptoms were all classic and should have been caught at least a decade sooner. Oh, and the doctor who made the diagnosis and ran the right tests was only 2 years out of residency at the time. Younger doctors are starting to learn that this is not a rare disease and I think are more likely to find it than doctors who graduated much before 2000.
So the two leading causes of death in the US are cancer and heart disease. And the 3rd? Doctors. Medical error kills 225,000 Americans every year and costs us more than $70 billion in unnecessary treatments. See this is why I was excited when Healthcare Reform was initially discussed, because it needs to be reformed. Increasing access to a failing system doesn't make much sense to me. Hemochromatosis figures directly into this as a significantly undiagnosed condition. I was on at least 10 unnecessary meds over the 15 years it took to diagnose me not to mention all the x-rays and scans. I know of some who even had exploratory abdominal surgery with their intestines pulled from their body - but no $7 iron panel ordered. We must keep educated and help our doctors help us. Kat ordered iron panel, understood the results, then still had to take it past 3 doctors before one did then next test and diagnosed me. Her Hyperparathyroidism was the same, where I initially suggested it to the doctor and I had to find the right course of treatment for her arguing with some of her specialists using recent study results they were unaware of. The onus is on us to have our health.http://articles.mercola.com/sites/articles/archive/2000/07/30/doctors-death-part-one.aspx
Of the many symptoms of Hemochromatosis, the least predictable is mental. Iron does not store in the brain, but somehow does affect it. Current studies are looking at Parkinsons, Alzheimers and restless leg syndrome. The ties to stroke are well defined already. Then there are mood swings and depression. Think of the big Celt warriors during the reign of Rome only feeling good if they bled on the battlefield now and again. Some I know were prone to barfights before diagnosis. The liver is considered the anger organ, so frequently we can go from calm to anger quickly and irrationally. Even as well controlled as my iron is, my family can tell when my 8 weeks is almost up and notice a difference immediately after I give a pint. Depression can be very dark, just read about the Hemmingways - this was the root of their multiple suicides. So neurological may seem minor on the list of symptoms, but it is not minor in how it affects those with it or their families.
Since the test for Hemochromatosis is easy and definitive, why doesn't the government just test everyone when they are born? This is a question many nations are discussing, especially Ireland where the percentages are higher than anywhere else in the world. The current roadblock is the percentage of reported issues. Lets say 1,000,000 Americans have the genes. Only half that currently report having symptoms. This is a pretty weak indicator when a transferrin saturation test of those reporting no symptoms might indicate that they are really still at risk or just not reporting symptoms. For now, this test is not done for everyone despite the high cost of misdiagnosis for the million or so of us who have it. This cost is a significant and preventable financial burden on our healthcare system and a significant and preventable cause of early disease and death of our citizens.
Hemochromatosis in ordinary terms can be described like this. Think of an old wooden roller coaster. That is like our blood stream. We can measure how many seats are on the ride, but it is likely that we do not want all those seats filled. An engineer will monitor the ride and decide what percentage of passenger capacity it should run at. Then a conductor will ensure that only that amount of seats is filled at any given time. With Hemochromatosis, we have no engineer or conductor (aka Hepcidin which is a liver enzyme). Who ever shows up at the park can get on our ride. So when we look at our total iron binding capacity (aka transferritin capacity) v. our serum iron (transferrin saturation) that indicates how well we are controlling iron's access to our bloodstream. If the 'ride' is over half full or so, then it starts getting damaged or loses passengers in places they shouldn't be. The 'iron passengers' getting stuck where they shouldn't be causes iron overload. By donating blood, we dump these passengers into a bag and keep our percent utilized capacity down (mine stays around 20%). This reduces the negative effect of iron for those with Hemochromatosis.
In 2008 the US Congress passed the Genetic Information Nondiscrimination Act, meaning that someone like those with Hemochromatosis cannot be discriminated against by employers or insurance companies. However, it may still be concerning topeople to have this diagnosis. Remember that only doctors can diagnose, but you do not need them to order the test. So you can order the tests without fear for around $200. If you do this and want my help with interpretation just let me know. The genetic test is pain free and will come back saying yes or no. The iron panel requires a needle stick and will give you values letting you know if they are in reference ranges or not. If you have both genes, like me, and your transferrin saturation is high then you need aggressive phlebotomy. You cannot donate more often than every 56 days without a doctor. You could do plasmapheresis more often than that if there is a provider of that near you, but if you are not A+ or B+ then the blood bank will likely insist that you give whole blood. I do not recommend attempting this without a doctor and diagnosis, but if caught early enough and you are willing to do a strict iron free diet and pay for the $7 iron panel after every donation to ensure that you are improving then it may be okay. Do not let your transferrin saturation go under 20 and the blood donation center will ensure your hematocrit stays at a safe level. There are some advantages to this approach, but if you have any symptoms that need a doctors attention then ensure you share your test results with them. Also genetic testing centers can be found which provide confidential counselling and advice on genetic matters. http://www.genome.gov/24519851
Steve McQueen died of Hemochromatosis. He also was very typical of our type. His troubled teens were likely due to mood swings and anger issues. These same traits worked well for him as a marine. His constant tan appearance helped him as a movie star. But his high bioavailability of iron definitely increased his susceptibility to cancer from limited asbestos exposure and also sped its race through his body. He fought it aggressively, but if its root cause had been diagnosed at the time he might have been saved before the experimental treatments that brought on his heart attacks. His diagnosis also would have saved his daughter. "McQueen married actress Neile Adams on November 2, 1956 (divorced 1972), by whom he had a daughter Terry (born June 5, 1959; died at 38 on March 19, 1998 as a result of hemochromatosis, a condition in which the body produces too much iron destroying the liver)"
http://www.rottentomatoes.com/celebrity/1010407-steve_mcqueen/biography.php
Much of what is discussed with Hemochromatosis is reducing iron load related issues. However, since we have no hepcidin our inflammation response is different. How different is currently being studied, but it is certain that we are more affected by inflammation than are the general population even when our iron levels are normal. Oxidation and inflammation are the two big overall causes of ill health. So, even when well controlled people with hemochromatosis should avoid inflammation challenging foods like gluten, sugar, polyunsaturated oils, transfats, dairy, feedlot raised meat, refined grains and food additives. Maybe I should say limit, because the only way to avoid all that is to live like my grandparents and only eat what you grow or raise. Also inflammatory disease will still have a greater affect on us, especially arthritis in the fingers (which may really be a type of gout). Note that inflammatory disease can include FATIGUE, DEPRESSION and MOOD SWINGS. So these are not limited to our times of high iron. Here is a good list of inflammatory diseases for which families with Hemochromatosis in them have a higher risk of encountering: http://www.progesteronetherapy.com/list-of-inflammatory-diseases.html#axzz1uwXSafZ8
Hemochromatosis and Lipitor: As discussed before, hemochromatosis is misdiagnosed 67% of the time and takes on average 9 years and 3 doctors to actually order the $7 iron panel, read it correctly and follow up with the genetic test. Not so for elevated cholesterol. Lipitor and other statins are prescribed at an alarming rate and at the first signs of 'elevated' cholesterol. Hemochromatosis will cause increased cholesterol. Remember LDL is created by the liver to heal the body - iron overload does plenty of damage - then HDL is created to clean up afterwards. Lipitor will force the liver to keep the HDL/LDL where it should be for healthy people. This means there will not be enough LDL to repair the damage that the iron is doing to the body. Also Lipitor reduces cholesterol by damaging the parts of the liver which produce enzymes in response to the body's call for help. Iron overload folks don't need any pharmaceutical assistance in damaging our livers, thanks. Taking the averages above, a person suffering with iron overload could be on Lipitor for nearly a decade before the real reason for their elevated cholesterol is found all the while doing irreparable damage to one of the most crucial organs in the body.
Hemochromatosis and the big three. The heart, pancreas and liver are the normal storage locations for iron in the body. When enough is stored there, hepcidin is produced by the liver telling the body not to digest or recycle any more iron. Those with hemochromatosis do not produce hepcidin, so they just keep sending all the iron they ingest primarily to these three organs. How much iron? The modern american diet contains much more than what is required. The RDA on labels is for women of childbearing years and not on birth control pills (18mg), the rest of us only need 8mg and even people without hemochromatosis should avoid ever having more than 45mg daily. Iron has no process of elimination and without hepcidin will just keep accumulating to the point where we can even set off alarms at airport security. Iron in the pancreas decreases its function and causes diabetes - the traditional killer in hemochromatosis. In the heart it can cause abnormal heart rhythms and early life heart attacks (men in their 40s). In the liver it will alter many body processes causing one to gain weight, bloat, fatigue, fail to process nutrients and basically just feel unwell. The iron then produces free radicals at an alarming rate at all these locations which will eventually lead to cancers and other disease. Much of this damage is completely reversible with diagnosis and treatment and of course fatal without.
Hemochromatosis and arthritis. This is known to affect carriers too! Which means most of you who are my first cousins or closer. We get a special arthritis called calcium pyrophosphate deposition disease (CPDD). It is assumed at this point that Iron within joints causes free radical generation and crystal deposition. this causes immune complex formation and inflammation. The damage from this is NOT reversible. Many of our iron overload symptoms just go away, but the damage from this pseudo-gout will not. Think of it like ice crystals forming in the joints then doing damage as the body moves. Even when the ice melts, the damage remains. CPDD can be misdiagnosed as arthritis, but if the underlying cause is hemochromatosis then no treatment will prevent further damage until hemochromatosis is diagnosed and treated. A very common presentation of this is painful handshakes due to the tendency for it to occur in the joints of the first two fingers.
Vitamin C tablets are deadly for Hemochromatosis. Food is fine, but Vitamin C supplements and food additives are different. There are two issues. The first is simply that Vit C increases iron absorption. If you already have or are fighting against iron overload, then that is not good. The second is much worse. Vit C supplements are not just an anti-oxidant, but also a pro-oxidant. This means that in the presence of iron they can create free radicals, damage white blood cells and even damage DNA. When iron is stored in the heart, it likes to go to the left ventricle. It is theorized that when vitamin C supplements react with a large storage of iron in a specific place of the heart that the massive localized creation of free radicals and white blood cell damage will CAUSE a heart attack. There is only one case study on this so far, but honestly how many ER docs are looking for this as a cause when someone comes through the door? More studies are in the works, but to be safe one should eat plenty of natural sources of vitamin C and keep supplements to under 500 mg/day from all sources. One papaya probably has more than you are getting in your tablet anyway and is much tastier. Here are some great sources: http://www.whfoods.com/genpage.php?tname=nutrient&dbid=109
Hemochromatosis and Autism. Studies are very early on this. The general population has from 1/100 to 1/400 people with hemocromatisis, however two separate genetic studies of kids diagnosed with Autism/ASD showed 30% of those kids had hemochromatosis. This does not show a link anymore than studies showing that nearly 100% of kids with autism have an engineer within two degrees of separation from them. Many studies right now are centering on whether the high iron availability in our modern diet has been one of the factors behind the surge in ASD diagnosises. This does not mean that we should keep iron from our kids, but a rational level of iron for kids is about 50% of what is on food labels. The RDA on food labels is for women of childbearing years who are not on birth control pills - 18mg/day, kids aged 1-3 should have 7 mg/day, aged 4-8 should have 10 mg/day and aged 9-13 should have 8 mg/day. Considering that a piece of white bread has 2 mg of iron and my kids favorite cereal has 4 mg of iron in 3/4 cup, exceeding this number is extremely easy. For kids with hemochromatosis, exceeding this number will cause all sorts of issues including mood swings and those of a depressed nature which could mimic or exacerbate ASD symptoms. So remember that for iron the RDA is a recommended maximum beyond which most will just stop processing and that for kids 50% of the RDA is the recommended maximum!http://www.cdc.gov/nutrition/everyone/basics/vitamins/iron.html#How much
Of Iron and Men. John Steinbeck died in New York City on December 20, 1968 of heart disease and congestive heart failure. He was 66, and had been a life-long smoker. An autopsy showed nearly complete occlusion of the main coronary arteries. We will never know how much hemochromatosis had to do with his death. However his son, also named John Steinbeck, died in 1988 four years after being diagnosed with hemochromatosis. In his book The Other Side of Eden the younger Steinbeck discusses his life and path to sobriety. His wife had to finish writing the book for him due to his early death (aged 44) which she blamed on doctors ignoring his hemochromatosis. She writes, “From the onset, and as the disease progressed, our children and I struggled with John's mood swings, violent outbursts, severe depression and anger. We were never told that those symptoms, which mimic mental illness, were part of the disease, as was his inability to communicate, sleeplessness, loss of memory and emotional withdrawal.” Her husband developed diabetes in 1990 and died in 1991 during a back operation “because the doctor neglected to take his complicated medical history into account,” she maintains. “Due to the toll HH had taken on his body, John was never an appropriate candidate for surgery.” In her opinion the doctors chose to ignore the radiologist’s recommendation for further testing, and John Steinbeck IV died on the operating table from a pulmonary embolism. To his wife, the final injustice was “a doctor who didn't have a clue about the severity of HH's effects.”
Read more: http://blogcritics.org/scitech/article/even-celebrities-are-not-immune-to/page-3/#ixzz1vVbZkZz7
Hemochromatosis testing debate: The following is from the Kaiser Permante Journal Winter of 1999. The debate still rages on, but imagine if this doctor had been properly diagnosed 32 years earlier! Imagine a hip replacement not being necessary, the years of pain, the early retirement. The full article is very interesting and concludes that it is far cheaper to test all Americans at age 18 than the mistreat those of us with Hemochromatosis for a good portion of our lives.
"Case Example: One Physician's Own Medical History
The diagnosis of clinically active hemochromatosis is easily overlooked, as illustrated by Dr. Graydon Funke, a disability-retired pediatrician from Southern California Permanente Medical Group (SCPMG) in Harbor City, California. Hoping to stimulate other physicians to be screened for this disease, Dr. Funke describes his own case:
I am now 68 years old. I had no major medical problems for the first 35 years of my life. I then developed some pain and swelling of the metacarpophalangeal joints of the index and middle fingers of both hands. I was diagnosed with gout and had uric acid levels between 6 and 11 mg/dL, and several joint taps were said to show the presence of uric acid crystals. Wrists, fingers, and toes were affected, but never a large joint. Allopurinol has prevented all acute attacks in the last 10 of the 15 years I've taken it. I was quite physically active for most of my life. By age 45, however, arthritic symptoms developed in my ankles, hands, back, and neck. I gradually became easily fatigued. I consulted with several internists and orthopedists, none of whom suggested a specific diagnosis. A brief trial of cortisone during a bike trip gave me much relief.
Once at age 59, while I was skiing, severe hip pain developed suddenly; the next year, I had a total left hip replacement. No one was certain whether I had arthritis alone or also had aseptic necrosis. Chronic atrial fibrillation developed a week after surgery, and attempts at cardioversion were never successful.
I became depressed, and my joint symptoms progressed to where I had to accept disability retirement at age 60. We moved to San Luis Obispo, and last year, at age 67, I came under the care of a local rheumatologist, Dr. Barry Eibschutz, who saw my rheumatic knuckles and said at the first visit, "I think you have hemochromatosis." My serum ferritin level was 2250 ng/mL. I had seen six internists, five rheumatologists, three orthopedists, two physiatrists, and one psychiatrist, but no practitioner--including myself--ever considered hemochromatosis.
MRI scan of my liver showed the increased density typical of iron overload. Results of my liver function tests were normal, and I chose not to have liver biopsy. I have now had 40 weekly phlebotomies of 500 mL that have reduced my serum ferritin level to 20 ng/mL. Diabetes had been developing, but my blood sugar levels are now becoming normal, perhaps owing to removal of the excess iron. My depression and fatigue have greatly improved with phlebotomy, although the arthritis has not."
http://xnet.kp.org/permanentejournal/winter99pj/hemochromatosis.html
Hemochromatosis and Cholesterol (just say no to Lipitor part 2). Cholesterol is truly elevated when it is above 260, but due to the potential that long term high normal numbers may cause hardened arteries, doctors tend to aggressively control cholesterol levels. But what about iron? In the normal population a high iron diet (as discussed before this is quite easy to achieve) is more likely to harden arteries than having high cholesterol. This sounds bad for folks like me, but the contrary is proving true. Hemochromatosis not only changes how my body processes iron, but also how it stores it. I store iron in a totally different part of my heart than others. This actually has the effect of making me essentially immune to plaque build up in my arteries. My doctor actually had me do a heart scan (due to my less than stellar family history) and confirmed that not only was there almost no plaque, but what was there was in a safe place. This means if you have hemochromatosis and your doctor wants to put you on statins (Lipitor, et al) to keep cholesterol from damaging your arteries - do not do it! All you will do is damage your liver. This is another reason for my family to be tested. Cholesterol has a purpose in the body, so artificially lowering levels when it is not possible for that to help prevent heart disease is only likely to do harm. http://circgenetics.ahajournals.org/content/2/6/652.full
Hemochromatosis and carriers. Carriers of a single gene (my mom, kids, half-siblings, 50-100% of my aunts and uncles, ~33% of my first cousins and ~12.5 of those of Celtic descent - >20% of current Irish population) should not be concerned. The primary concern would be hepcidin production and carriers have been proven to produce this just fine. It is only for people with two genes (or a particular rare compound issue on a single gene) that have hepcidin issues. But carriers do store iron differently. Remember yesterday's post about iron storage location changing risks of high cholesterol on the arteries in a iron load controlled person with hemochromatosis. This same advantage may be there for carriers without the iron overload potential this is currently being tested). Similar to sickle cell anemia where female carriers lived longer than either those who had both genes or those who had neither, hemochromatosis carriers are expected to have a genetic ADVANTAGE. This is why I hate reading that hemochromatosis is a genetic disease or defect. It is a selective advantage over the general population which allowed my family to better survive famine, war, hunting accidents, childbirth, pestilence, TB, Typhoid, Salmonella and now (potentially) high cholesterol. So carriers, all you need to remember is that you do store iron differently (not in macrophages for those of you who know chemistry) so you may not have the same risks as the general population to certain diseases. However, you and your partner should consider genetic testing to know if there is a reason to test your kids. The earlier you catch someone like me in the family, the better you can make their entire lives.
Hemochromatosis and Free Radicals. Free radicals always makes me think of Never Say Never Again when Bond tells Moneypenny that he's been assigned to eliminate all free radicals. "Oh, do be careful James!" Free radicals are caused by oxidative responses in our body and is the primary force behind most causes of death. Inflammation is the other. Iron generates free radicals which then damage our cells. They can alter DNA causing cancer or simply damage cells so they cannot do what nature intended. Those with iron overload due to hemochromatosis can generate countless free radicals waiting for doctors to diagnose them thereby causing significant harm especially to their liver, pancreas and heart. Maybe Bond should have been tested for hemochromatosis!
Hemochromatosis and disease. I have harped on doctors' lack of knowledge regarding iron metabolism and hepcidin for most of the month. To me, this is the most important reason for testing oneself. If you have genes like me, then there is still only a 50% chance that you will have iron overload issues. BUT, your responses to disease and infections are likely different than others. TB and Typhoid are not the killers they once were here, but we are immune to them. So if you have hemochromatosis and your doctor diagnoses you with TB, they are wrong. Similarly, we are immune to one rare type of pneumonia. There is a growing list of complications that your doctor will probably not know. Death from raw Gulf oysters is a very real risk to us. Death from those Listeria melons of Colorado last year was too. The linked article is quite science heavy and uses all the medical names for issues associated with higher risk in hemochromatosis. These are important for us to know, because they may be more common for us and more deadly for us. At least reading the two tables may be of interest to most. http://www.ijidonline.com/article/S1201-9712(07)00081-1/fulltext
Hemochromatosis and Bipolar Disorder. It has been proven that 1% of all patients diagnosed with Bipolar Disorder actually have hemochromatosis. For this 1% the ONLY treatment that can help them is blood donation which is shown to significantly reduce symptoms after one draw and virtually remove all symptoms after the second pint. So surely the protocol for treatment must take this into account? Yes, as a possible cause of why everything else fails. Around seven different medications and combinations may be tried first along with electro-shock therapy, magnetic pulses into the brain and hospitalization. After all this fails, then they do the $7 iron test and then the $200 gene test after which the complete cure comes in two weeks! This is a nightmare. Bipolar is a killer of relationships, careers and the patient with symptoms like: poor judgement, poor temper control, binge eating, binge drinking, drug use, promiscuity, alienating friends and family and a high risk of suicide. None of the treatment can help and in fact may do harm like increasing the severity of these symptoms, adding side effects or adding totally new issues. Do not let them put you or anyone you love through this. If you are of Celtic descent and diagnosed with bipolar disorder without being tested for hemochromatosis, then do the tests yourself. $207 vs. you marriage, family, friends, job and maybe your life ... it is worth it. If it comes back positive for both genes, find a doctor that knows what that means and have them reevaluate your medications immediately! Source: http://www.ghpjournal.com/article/S0163-8343(11)00136-8/fulltext#bb0030 More info on Bipolar Disorder:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001924/
Hemochromatosis and veterans. I wonder how many who have served our country have had their readjustment to society affected by hemochromatosis? It is common for those in the military to donate to the Red Cross. Many may also stop suddenly like my dad did due to malaria in the African Campaign in WWII. This is known to cause a rapid increase in hemochromatosis symptoms. Many of these symptoms could also be easily misdiagnosed as PTSD. Those who have seen active duty may never stop seeing those traumatic images. Like my dad seeing men walk into howitzer fire because they just could not take the bombardment anymore. How do you stop seeing that in your mind? I still think about it and I was not even there. It is normal to have those images stay with you. However, issues like those discussed yesterday related to bipolar disorder can then be confused with PTSD related to reocuring memories like these. This can lead to the same milieu of ineffective medications and unnecessary therapy when all that is really needed is blood donation. If only a percent of those who have returned to from active duty could be helped with a simple blood test, wouldn't it be worth testing them as part of PTSD treatment?
Hemochromatosis and the Liver. The liver is the number one risk of death for hemochromatosis. Hepatitis immunizations are very important as soon as diagnosis occurs. I was immunized against A, B and C. It is best to choose not to drink alcohol, but if you do then women should not exceed one drink a day and men should not exceed two drinks a day. This allows more freedom than I expected. The biggest issue to a liver is obesity. Diet plays a big role with essentially the less 'toxins' like HFCS, transfats and food additives the better. But being obese can inflammation and fibrosis (scaring) just as much as being an alcoholic can. Liver disease is rapidly moving up the list of most frequent killers of humans and for those with hemochromatosis it is even more deadly.
Hemochromatosis and the Pancreas. As I approach the last couple of days of my attempt to post something new daily on Hemochromatosis for all of May I will discuss the biggest traditional killer. Iron overload in the pancreas brings a particularly nasty type of progressive diabetes. This is the reason for the original name of Bronze Diabetes since the patients presented with bronzed skin and diabetes. Pancreas health in general is supported by a low calorie diet and maintaining a reasonable body weight. Being fat is almost as bad for the pancreas as loading it up with iron. When iron (and/or fat) reduce the pancreas's ability to respond to sugar, we become diabetic. A side effect of using insulin for diabetes is weight gain, which creates a vicious circle. Being at a normal body weight is very important for everyone, but especially for people with hemochromatosis. All three major affected organs - pancreas, liver and heart - function better with lower body fat percentages.
Hemochromatosis - final post. This is the last of 31 consecutive days of my ranting about hemochromatosis. I learned a lot and hope it provided benefit to others. The bottom line here is that it is not rare, but having it diagnosed is. When you know it exists in your family you can take matters into your own hands. Untreated hemochromatosis is fatal. But that is not the worst of it. It is fatal in very unpleasant ways. But that is not the worst of it. This can destroy relationships and lead to self destructive behavior. In essence, anything bad becomes worse. My brother died when I was 11 and my dad had a massive stroke that same year leaving him partially paralyzed for the last 23 years of his life. My life went south at that same time trying to make sense of it all. Then I watched my best friend's dad die instantly from a heart attack. I am not saying that had I known then that I had hemochromatosis and high iron that I could have changed the route my life took in response to these horrible events. But I can say it could have been different. The effect on the brain is still not just unexplained, but contrary to what psychiatry thinks they know. How this affects teenagers is unknown, but in the words of a soon to be released movie - 'If you had the chance to change your fate - would ya?'.
Okay, so I said my last post was the last on hemochromatosis... But here is one more. If you have had the genetic test and it came back negative, you may still have hemochromatosis! The genetic test will likely be updated in the next year or two to include more genes. The British Journal of Haematology just published this article. Excerpt: "Herein, we prove that both mutations partially abrogate HFE association with B2M and TFRC, crucial for its correct processing and cell surface presentation. Although E277K has a more deleterious effect than V295A, we propose that both mutations may play a role in the development of hereditary haemochromatosis." In other words, us 282s and 282/63s may have company with some 277 or 295 heterozygotes. And possibly compound homozygotes? I do not have a subscription to the BJH so can only read/post the abstract.http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2141.2012.09164.x/abstract