What are the 2 gene mutations most commonly implicated in hereditary hemochromatosis?

Q: What are the 2 gene mutations most commonly implicated in hereditary hemochromatosis?

C282Y and H63D mutations of the HFE gene. C282Y homozygotes account for 80%-85% of typical patients with hereditary hemochromatosis. The H63D mutation is less likely to cause disease compared to C282Y. Schematic of HFE shown here (from AASLD clinical practice guideline, PMC3149125).

Q: What are the 2 gene mutations most commonly implicated in hereditary hemochromatosis?

C282Y and H63D mutations of the HFE gene. C282Y homozygotes account for 80%-85% of typical patients with hereditary hemochromatosis. The H63D mutation is less likely to cause disease compared to C282Y. Schematic of HFE shown here (from AASLD clinical practice guideline, PMC3149125).

By William Aird

What are the 2 gene mutations most commonly implicated in hereditary hemochromatosis?

C282Y and H63D mutations of the HFE gene. C282Y homozygotes account for 80%-85% of typical patients with hereditary hemochromatosis. The H63D mutation is less likely to cause disease compared to C282Y. Schematic of HFE shown here (from AASLD clinical practice guideline, PMC3149125).

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