Journal
TISSUE ANTIGENS
Volume 61, Issue 4, Pages 263-275Publisher
WILEY
DOI: 10.1034/j.1399-0039.2003.00065.x
Keywords
beta 2m; hemochromatosis; HFE; iron; MHC class I-related genes; MHC class I; T lymphocytes
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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 resent 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).
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