Hemochromatosis gene modifies course of hepatitis C viral infection

Abstract

HFE is major histocompatibility class I-like (MHC) molecule that, unlike other known classical and nonclassical MHC proteins, has a function in cell and body iron metabolism. HFE is unable to bind iron but indirectly modulates the rate of iron accumulation in cells that are key in body iron trafficking and absorption. The disruption of the HFE gene in rodents leads to iron overload, whereas a homozygote mutation in the HFE protein in humans that changes cysteine at position 282 to tyrosine (C282Y) is responsible for iron overload and organ damage resulting in the most common hereditary disorder of iron metabolism, hemochromatosis (HC).1,2 A second mutation, which changes histidine at position 63 to aspartic acid (H63D), is present in a minority of patients, but its role in the pathogenesis of the disease is uncertain.3