No Doctors?
The best course is to have a trusted, informed doctor. This page is for those who do not trust doctors or for whatever reason choose not to discuss this issue with them. It is especially for those who have had someone diagnosed with Genetic Hemochromatosis in their family. This is also where a list of symptoms will be found.
Donate Blood!
There is nothing wrong with the blood of someone with Genetic Hemochromatosis. This was proven in a study by the National Institute of Health back in 2001. In fact our blood may be better than others because the plentiful iron makes for plentiful hemoglobin. There are many reasons that someone who has GH in their family should donate blood. Each unit (500 mL) of blood removed represents approximately 200 mg of iron and drops the ferritin by about 30 ng/mL. If you cannot or choose not to, then you must make significant sacrifices in your diet and monitoring your iron levels becomes even more crucial.
Also consider donating using Automated Donation (erythrocytapheresis) if it is available. This is a process which uses smaller needles and only takes red blood cells returning the rest back to you. This can be much more tolerable. A study published in 2012 (pdf here) even argues for its use in general for GH treatments. They suggest that this process can bring a person into maintenance phase twice as fast as normal phlebotomy. It also significantly reduced the physical and social discomfort of blood donations resulting in a reduction in the number of patients discontinuing treatment. Another new article (May 15, 2013) on this can be found at www.hemochromatosis.org. Excerpt: "DRCA is a nice option to offer hemochromatosis (HHC) patients, since it cuts in half the number of visits to the blood center, while accomplishing nearly the same degree of iron removal and the procedure only takes about 40 minutes."
Also consider donating using Automated Donation (erythrocytapheresis) if it is available. This is a process which uses smaller needles and only takes red blood cells returning the rest back to you. This can be much more tolerable. A study published in 2012 (pdf here) even argues for its use in general for GH treatments. They suggest that this process can bring a person into maintenance phase twice as fast as normal phlebotomy. It also significantly reduced the physical and social discomfort of blood donations resulting in a reduction in the number of patients discontinuing treatment. Another new article (May 15, 2013) on this can be found at www.hemochromatosis.org. Excerpt: "DRCA is a nice option to offer hemochromatosis (HHC) patients, since it cuts in half the number of visits to the blood center, while accomplishing nearly the same degree of iron removal and the procedure only takes about 40 minutes."
What does Genetic Hemochromatosis look like?
It will be different for everyone, but the earliest symptoms according to the CDC are:
Arthralgia is just joint pain. This is classically seen in the fingers, but can be almost anywhere. But note the progression through the rest of this list. Start with joint pain then arthritis then arthopathy - which is joint disease and is typically caused by psuedogout for us where salt (calcium pyrophosphate crystals) form in our joints. More details on this are on the Arthritis Terms page.
Missing from this list of early symptoms is mood swings which is often misdiagnosed as bipolar disorder as noted in this case report from General Hospital Psychiatry. It should be noted that the result of treatment for GH was that the person diagnosed as bipolar was cured. According to NIMH, there is no cure for bipolar disorder. Those diagnosed with it must be on medication for life. Seems like a good reason to test someone's iron to me. It is also notable that many side effects of medications typical for bipolar disorder overlap the common symptoms of GH which makes it harder to be diagnosed with GH after being diagnosed as bipolar.
Advanced symptoms again according to the CDC are:
Continuing from the CDC:
Diabetes mellitus occurs in 25–75% of patients. It is more likely to develop in those with family histories of diabetes, suggesting that direct damage to pancreatic islets by iron deposition occurs in combination with a genetic predisposition.
Arthropathy develops in 25–50% of patients. It usually occurs after age 50.
Cardiac involvement is the presenting manifestation in about 15% of patients. The most common manifestation is palpitations as symptoms of arrhythmia..
And finally:
Excessive skin pigmentation is present in more than 90% of symptomatic patients at diagnosis. Here is a good picture of what GH looks like from Trends in Urology & Men's Health (January/February 2013).
- Fatigue.
- Weakness.
- Weight loss.
- Abdominal pain.
- Arthralgia.
Arthralgia is just joint pain. This is classically seen in the fingers, but can be almost anywhere. But note the progression through the rest of this list. Start with joint pain then arthritis then arthopathy - which is joint disease and is typically caused by psuedogout for us where salt (calcium pyrophosphate crystals) form in our joints. More details on this are on the Arthritis Terms page.
Missing from this list of early symptoms is mood swings which is often misdiagnosed as bipolar disorder as noted in this case report from General Hospital Psychiatry. It should be noted that the result of treatment for GH was that the person diagnosed as bipolar was cured. According to NIMH, there is no cure for bipolar disorder. Those diagnosed with it must be on medication for life. Seems like a good reason to test someone's iron to me. It is also notable that many side effects of medications typical for bipolar disorder overlap the common symptoms of GH which makes it harder to be diagnosed with GH after being diagnosed as bipolar.
Advanced symptoms again according to the CDC are:
- Arthritis.
- Abnormal liver function (e.g., elevated transaminase and clinical liver disease).
- Glucose intolerance and diabetes.
- Chronic abdominal pain.
- Severe fatigue.
- Hypopituitarism.
- Hypogonadism.
- Cardiomyopathy and arrhythmia.
- Cirrhosis.
- Liver cancer.
- Heart failure.
- Gray or bronze skin pigmentation.
Continuing from the CDC:
Diabetes mellitus occurs in 25–75% of patients. It is more likely to develop in those with family histories of diabetes, suggesting that direct damage to pancreatic islets by iron deposition occurs in combination with a genetic predisposition.
Arthropathy develops in 25–50% of patients. It usually occurs after age 50.
Cardiac involvement is the presenting manifestation in about 15% of patients. The most common manifestation is palpitations as symptoms of arrhythmia..
And finally:
Excessive skin pigmentation is present in more than 90% of symptomatic patients at diagnosis. Here is a good picture of what GH looks like from Trends in Urology & Men's Health (January/February 2013).
Bronzing happens first around the lower neck, the arm pits, over the genitals and in mucous membranes. The bronzing on this man's neck is exactly what we should recognize as a warning sign!
Brain Related Issues
A nice article was published in the March 2012 edition of Life Extension Magazine. Although they have a twist here towards selling their products (some of which are controversial), the information is contemporary and useful. Some quotes:
- Pathologic age-related iron overload damages cells and tissues and is a causative factor in numerous degenerative diseases, including liver fibrosis,cardiovascular disease, and various cancers like colon cancer.
- Few doctors inform their patients of the dangers of high total-body iron distributions, nor do they test for total-body iron status.
- Excessive iron accumulations are found in affected brain areas of people with Alzheimer’s, Parkinson’s, and other neurodegenerative diseases. A recent article on ALS can be found here.
- Even in normal older adults, people with higher brain iron accumulations perform more poorly on cognitive tests than do those with lower brain iron concentrations.
- A breakthrough UCLA study demonstrates that limiting lifetime exposure to iron can reduce brain iron accumulations.
- A number of nutrients can help reduce your body’s total exposure to iron through chelation (binding to free iron atoms) and antioxidant activity, including quercetin, curcumin, R-lipoic acid, and silymarin.
Direct to Consumer Testing!!
No doctors can mean no testing. But one can order iron tests without doctors. If you show signs of bronzing, have concerning symptoms or especially before allowing yourself to be given medication for any related diseases, order the iron tests and take control of your health. There are many places that offer this service including HealtheIron.com, WellnessFX.com, AnyLabTestNow.com and AccessaLabs.com. Remember to find the test for Serum Ferritin as well as Transferrin Saturation %. These are frequently offered separately for around $50 each or together in a package for $80+.
I do recommend getting the genetic test done. Ordering it through 23andMe ($99 as of March 2013 and even less if multiple kits are ordered) will provide information on the three main SNPs on the HFE gene along with a great deal of more information including genealogical information. Even though I had already been diagnosed as being homozygous for the C282Y SNP, I still had this test done to get more information. The additional TF gene information was very helpful for me. It is important to note that the FDA hold on 23andme was only for providing medical translation of the genetic data, not for running the genetic test. They are still up and running, but will only give you details on your ancestry for now. But all the medical information is still there and can be read by you. I have provided a handy page for linking in and translating this information here.
Other genetic testing services are Genetrack Biolabs ($156 as of March 2013), Kimball Genetics (Requires a call for price quote) or Health Check USA ($230 as of March 2013). Invitae is another interesting option. They charge $1500, BUT you can request sequencing of all genes that they cover for that one fee. This includes deletions/duplications that will NOT be caught by the less expensive tests. The list of genes that they sequence is truly impressive as we wait for the $1000 full genome sequence tests to eventually be available.
The next step is to tell your relatives and have them tested as appropriate. The best way to keep everyone in the family healthy is to have knowledge.
I do recommend getting the genetic test done. Ordering it through 23andMe ($99 as of March 2013 and even less if multiple kits are ordered) will provide information on the three main SNPs on the HFE gene along with a great deal of more information including genealogical information. Even though I had already been diagnosed as being homozygous for the C282Y SNP, I still had this test done to get more information. The additional TF gene information was very helpful for me. It is important to note that the FDA hold on 23andme was only for providing medical translation of the genetic data, not for running the genetic test. They are still up and running, but will only give you details on your ancestry for now. But all the medical information is still there and can be read by you. I have provided a handy page for linking in and translating this information here.
Other genetic testing services are Genetrack Biolabs ($156 as of March 2013), Kimball Genetics (Requires a call for price quote) or Health Check USA ($230 as of March 2013). Invitae is another interesting option. They charge $1500, BUT you can request sequencing of all genes that they cover for that one fee. This includes deletions/duplications that will NOT be caught by the less expensive tests. The list of genes that they sequence is truly impressive as we wait for the $1000 full genome sequence tests to eventually be available.
The next step is to tell your relatives and have them tested as appropriate. The best way to keep everyone in the family healthy is to have knowledge.