Meinhard HFE and Hemochromatosis

 

Our family may have a genetic concern for the hidden risk of Hemachromatosis. Here’s why:

The small intestines extract iron from food by specialized proteins, which attach to iron. The HFE gene encodes for these proteins but it has 5 variants that upset the equilibrium the iron levels. Two variants in the HFE gene, H63D and C282Y, occur in our subpopulation at around 15% and 7%. The HFE gene is sex related, and inheriting both recessive variants produces hemochromatosis. Inheriting only one of the recessive genes causes no problems except that in offspring, there is a significant chance of inheriting two genes of one or two of the variants.

It takes a long time for iron build up to produce iron overload and clear symptoms. The symptoms might be fatigue, weakness, joint pain, perhaps even abdominal pain, loss of sex drive, liver disease, diabetes, heart problems, and sometimes skin discoloration. The body cannot get rid of iron but blood donations, menstruation, and phlebotomies reduce iron levels.

Since Iron buildup may take as much as a whole lifetime before it does damage, knowing genetically whether you have HFE hemochromatosis lets you intentionally avoid unnecessary iron intake (vitamin supplements without iron, maybe cast iron skillets, low iron meats, etc. but these probably don’t significantly effect iron levels) but more importantly, get medical screening and then intervention, if necessary, to reduce your iron levels.

To detect hemochromatosis your physician will begin with two blood tests; ferritin levels give a rough indicator of amount of iron in your body; less than 250 micrograms per liter is good but range is 35 - 463 ng/mL.  My range is 597-633, and they flagged it as high.

The second test is the serum ferritin saturation percent which measures the capacity being used by the iron binding protein in your blood; less than 45% is good.

If these are high, then your doctor may ask for a special MRI, my next step. A liver biopsy produces even more accurate results but an invasive procedure, only deemed necessary in severe cases. If you are asymptomatic, monitoring iron level to stay below 463 may be all you need to do.

If you are a carrier of the HFE gene variants, it may appear in your offspring so be sure to tell them. Since they may have no overt symptoms for many years, only the two blood tests will give advance waning by indicating something might be haywire in their iron system. They can take long term preventative measures to insure their survival until their death date.

 

Dick