title: Hemochromatosis and "HLA-H": definite!
abstract: Hereditary hemochromatosis (HH), which affects some 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals of Northern European descent, results in multi-organ dysfunction caused by increased iron deposition, and is treatable if detected early. Using linkage-disequilibrium and full haplotype analysis, we have identified a 250kb region more than 3 megabases telomeric of the major histocompatibility complex (MHC) that is identical-by-descent in 85% of patient chromosomes. Within this region, we have identified a gene related to the MHC class I family, termed HLA-H, containing two missense alterations. One of these is predicted to inactivate this class of proteins and was found homozygous in 83% of 178 patients. A role of this gene in hemochromatosis is supported by the frequency and nature of the major mutation and prior studies implicating MHC class I-like proteins in iron metabolism.
authors.affiliation: Joint Liver Program, The Queensland Institute of Medical Research and the Department of Medicine, University of Queensland, Brisbane, Australia.
authors.forename: E C
authors.initials: EC
authors.lastname: Jazwinska
authors.forename: L W
authors.initials: LW
authors.lastname: Powell
mesh_terms: D005805:Genes, MHC Class I; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*