Hemochromatosis is a genetic disorder in which the body stores too much iron. Normally, a person absorbs about 8 – 10% of iron that they eat, but a person with hemochromatosis can absorb up to 4 times that amount.
In classic hemochromatosis, men may start seeing problems associated with too much iron in their 30’s, while women with normal menstrual cycles may not have problems until menopause. Initial symptoms may be memory problems, fatigue, abdominal pain, irregular heartbeat, and lack of sex drive. These seem to be the non-specific symptoms of lots of issues, and hemochromatosis may be missed without a doctor running an iron panel.
As iron continues to accumulate in a person with hemochromatosis, there are quite a few diseases that can develop: osteoarthritis, osteoporosis, liver failure and other problems, enlarged spleen, abnormal skin color (bronzed or ashen-gray), enlarged heart, hypothyroidism, or hypogonadism.
It is easy to check your 23andMe results to see if you are a carrier of the genes for hemochromatosis. Please note that having the genes does not mean that you will have a problem with your iron level; other things such as environment, diet, and other genes may come into play. If you do have the polymorphisms for hemochromatosis, you should keep an eye on your iron levels and talk with your doctor.
There are two mutations that are strongly associated with hemochromatosis: HFE c282Y (rs1800562) and HFE H63D (rs1799945). Those who are homozygous for C282Y with have A/A on rs1800562 and are at the highest risk for hemochromatosis. A person who is homozygous for the H63D mutation will have G/G on rs1799945 and are at a risk for mild hemochromatosis. Those who are compound heterozygous (one A on rs1800562 and one G on rs1799945) also may be affected by hemochromatosis if the polymorphisms are on separate chromosomes (i.e. one from mom, one from dad).
- A/A: can cause hemochromatosis
- A/G: carrier of the risk allele, also check to see if compound heterozygous with rs1799945
- G/G: not a carrier
- G/G: can cause mild hemochromatosis
- C/G: carrier of the risk allele, also check to see if compound heterozygous with rs1800562
- C/C: not a carrier
There are several good resources for reading more about hemochromatosis. Please read through these and do your own research on the topic!
General disclaimer: The information contained on this page is based my research of the topic. I am not a doctor! Please do talk with your doctor if you have questions or concerns.