Sep

18

2021

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

By William Aird

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).