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Hepatology. 1997 Feb;25(2):495-6.

Hemochromatosis and "HLA-H": definite!

Author information

  • 1Joint Liver Program, The Queensland Institute of Medical Research and the Department of Medicine, University of Queensland, Brisbane, Australia.

Abstract

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.

PMID:
9021970
[PubMed - indexed for MEDLINE]
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