HFE was discovered as the hereditary hemochromatosis (HH) gene. It is located on chromosome 6 (6p21.3), 4Mb telomeric to the HLA-A locus, and its product has a structure similar to MHC class I molecules. HFE encodes two frequent mutations: C282Y and H63D. One of these (C282Y) is present in a large proportion of Caucasian HH patients. HFE has a tissue distribution compatible with a role in iron absorption (intestine), recycling (macrophages) and transport to the fetus (placenta).
Molecular Immunology, Institute for Molecular and Cell Biology, Oporto, Portugal Molecular Pathology and Immunology, Instituto de Ciências Biomédicas Abel Salazar, OPorto, Portugal.
