Is there a Cure?
Iron Overload has a drastic effect on the heart, pancreas and liver. The earlier it is discovered the more of a 'cure' there is. The best way to get iron out of the body is through frequent phlebotomies (blood donations). In general, we are bled until our ferritin would be considered low for the general population and then maintain that level by continued less frequent phlebotomies. This works because as the body creates new red blood cells to replace the ones we are donating, the iron stored in our bodies is enlisted to make hemoglobin for the new cells. Each donation removes about 200 mg of iron from our bodies. Eventually our serum ferritin will get to under 50 ng/ml. and needs to stay there.
It is important to remember that there is nothing wrong with our blood as proven by the National Institute of Health in 2001 in this study. Not every place we donate will accept our blood into the general blood supply. Look for a center near you with a variance allowing them to use you blood! I have created a page with a map to hopefully help you find a location near you. I feel very strongly about donating blood and was a donor before I was diagnosed. I have donated over 9 gallons at my current center and had 2 gallons donated where I lived before! If every pint can save up to 3 lives, then we can really feel like we are doing good for others while we are doing good for ourselves.
It is important to remember that there is nothing wrong with our blood as proven by the National Institute of Health in 2001 in this study. Not every place we donate will accept our blood into the general blood supply. Look for a center near you with a variance allowing them to use you blood! I have created a page with a map to hopefully help you find a location near you. I feel very strongly about donating blood and was a donor before I was diagnosed. I have donated over 9 gallons at my current center and had 2 gallons donated where I lived before! If every pint can save up to 3 lives, then we can really feel like we are doing good for others while we are doing good for ourselves.
Is that the cure?
Hereditary Hemochromatosis is more than just Iron Overload. Reducing our serum ferritin will stop and in some cases reverse damage caused by iron. However, the underlying cause of our excessive iron storage is the lack of a hormone produced by our liver called Hepcidin. The SNP on our HFE gene has the end result of restricting the production of this hormone. Different gene variations have different effects with the C282Y homozygous mutation reducing hepcidin production to zero in many people. This is why many symptoms do not get better, such as joint pain, mood swings, fatigue and stomach pain.
Further it has been discovered that h63d and c282y reduce the availability of ALK3 on the surface of our liver cells. Without ALK3 the body cannot produce hepcidin, so the root biological cause of our malaise has been defined finally as of August 2014. Find here the enthusiastic, but highly technical review of this impact by Dr. Muckenthaler.
Further it has been discovered that h63d and c282y reduce the availability of ALK3 on the surface of our liver cells. Without ALK3 the body cannot produce hepcidin, so the root biological cause of our malaise has been defined finally as of August 2014. Find here the enthusiastic, but highly technical review of this impact by Dr. Muckenthaler.
So the cure is....
On the horizon in human trials is a hepcidin replacement or augmentation medications. This will work similar to insulin for diabetics. When our body would normally produce hepcidin but cannot we can provide it synthetically. This could still be a decade away, but will significantly alter the current approach to diagnosing Genetic Hemochromatosis and could finally spark universal testing for it. Anyone who has a genetic variation on their HFE gene is ultimately at risk for producing too little hepcidin and by ensuring they can replace it synthetically a myriad of ailments, misdiagnosis and unhappiness can be prevented. As long as hepcidin is made available to all who need it from an early age, genetic hemochromatosis will never cause injury due to iron overload again and all of the symptoms can finally be cured. This is called PR65 and details can be found in its patent.
Also with new understandings of ALK3, a pill could be created which provides extra amounts of this enzyme to our liver cells. In that way our hepcidin production would be jump started without using an expensive synthetic hormone. Enzymes are much simpler - and therefor cheaper. But the ALK3 discovery happened 18 months after PR65 was submitted for patent, so it will not likely get to market first.
Also with new understandings of ALK3, a pill could be created which provides extra amounts of this enzyme to our liver cells. In that way our hepcidin production would be jump started without using an expensive synthetic hormone. Enzymes are much simpler - and therefor cheaper. But the ALK3 discovery happened 18 months after PR65 was submitted for patent, so it will not likely get to market first.
Or how about this one.
It is so important to remember that research continues into genomics in general and the HFE gene itself. This article: http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0017542 describes the current understanding that HFE gene creates multiple RNA sequences depending on where the cell is in the body. These different RNA sequences function in different ways but are still affected by at least the c282y variation. However, hidden in the last paragraph is a glimpse of hope for us. RNA sequences can be manufactured and turned into injectable medications. This is essentially how insulin is created for diabetics. Since one of these RNA sequences of HFE appears to work through the bloodstream to help control iron homeostasis. If this proves to be true, then a medicine could be created for c282y homozygotes (using a RNA sequence without our variation) which would be injected by them, similar to insulin, and provide a short term correction in their ability to correctly balance their body's iron supply. Conversely, the opposite of this is true as well. Someone who is struggling with anemia could be injected with an RNA strand created WITH the c282y variant to force them to store all iron that they ingest.
Or how about some science fiction?
CRISPR is a technology now in use which effectively allows for editing of DNA sequences. So it is theoretically possible to load a bacteria with the correct HFE sequence information, have it target our liver cells and essentially correct our DNA sequence in our existing cells so that the HFE variant, like c282y, is completely gone. Who knows if the FDA would ever allow such a thing to come into being, but the science is there.