Genetics in Iron Storage
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The Correct Choice is C- Two common HFE mutations (C282Y and H63D), have been described.
- Approximately 85-90% of patients with typical clinical manifestations of hereditary hemochromatosis are homozygous for C282Y, although compound heterozygosity (i.e., carrying two different mutations: C282Y/H63D) may also result in the disease.
- Other HFE mutations (e.g., S65C) have also been described which are clinically less important, but can lead to mild iron overload when inherited in the compound heterozygous state with C282Y or H63D.
- Although the majority (90% of men, 70% of women) of C282Y homozygotes develop increased body iron stores, end-organ damage occurs much less frequently than previously thought.
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