The gene most commonly associated with hereditary hemochromatosis is the HFE gene. There are three mutations in this gene (C282Y, H63D and S65C) that can increase the risk of hemochromatosis. This hemochromatosis DNA test is able to determine whether an individual has two copies of a mutation (homozygous), one copy of one mutation (heterozygous), one copy each of two different mutations (compound heterozygous) or whether an individual does not carry any of the HFE mutations.
The C282Y (845G>A) mutation carries the highest risk for iron overload when two copies are inherited (homozygous). The other two mutations, H63D (187C>G) and S65C (193A>T) have a lower chance of causing hemochromatosis.
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