Clinical Significance
The iron storage disorder, hereditary hemochromatosis,(HHC) is an autosomal recessive genetic disorder that usually results from defects in this gene.
The mutation or polymorphism most commonly associated with hemochromatosis is p. C282Y. About 1/200 of people of Northern European origin have two copies of this variant; they, particularly males are at high risk of developing hemochromatosis.
Read more about this topic: HFE (gene)
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