Human Leukocyte Antigen (HLA) part 61

HEMOCHROMATOSIS

Iron-overload disoreders owing to genetic mis-regulation of iron aquisition are referred to as hemochromatosis. The most prevalent genetic iron-overload disorders in Caucasian is caused by mutation in the HFE gene, an atypical HLA class I molecule. The HFE gene was first identified in 1996 as an major histocompatibility complex class I-like gene in which homozygosity for a missense mutation that results in cystein-to-tyrosyne substitution at amino acid 282 of human HFE protein (C282Y) was found in vast majority of patients with hemochromatosis.