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Hemochromatosis and “HLA‐H”: Definite!
Author(s) -
Jazwinska E C,
Powell L W
Publication year - 1997
Publication title -
hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.488
H-Index - 361
eISSN - 1527-3350
pISSN - 0270-9139
DOI - 10.1002/hep.510250240
Subject(s) - hemochromatosis , human leukocyte antigen , medicine , hereditary hemochromatosis , gastroenterology , immunology , antigen
Background/Aims: 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.