Regular Article
A High Prevalence of HLA-H 845A Mutations in Hemochromatosis Patients and the Normal Population in Eastern England

https://doi.org/10.1006/bcmd.1997.0145Get rights and content

Abstract

ABSTRACT: We have examined normal individuals and all the patients currently being treated for hemochromatosis at the Norfolk and Norwich hospital for mutations in the HLA-H gene. We found a gene frequency in 200 normal subjects for the 845A (C282Y) allele of 0.085, corresponding to a carrier frequency of 17% which is among the highest reported anywhere in the world. The frequency for the less penetrant 187G (H63D) allele was 0.16 among 58 of the normal subjects, which corresponds to a carrier frequency of 32%. All 18 hemochromatosis patients were homozygous for the 845A allele which is not significantly different from other reports in our subset of 12 unrelated patients. These findings present a snapshot of a relatively stable population containing a predicted 3,500 individuals homozygous for the 845A allele but not diagnosed with hemochromatosis. This population will be an excellent model for studies on the penetrance of the 845A homozygous genotype and population screening.

References (13)

There are more references available in the full text version of this article.

Cited by (58)

  • Iron Metabolism and Related Disorders

    2013, Emery and Rimoin's Principles and Practice of Medical Genetics
  • Hemochromatosis Genotypes and Risk of Iron Overload-A Meta-Analysis

    2011, Annals of Epidemiology
    Citation Excerpt :

    The studies varied in their geographical setting, with 79.1% being of European origin (8, 19–21, 24–38, 41–45, 47–50, 52–55). One study was prospective (25), 33 studies were case-control studies (8, 20, 26–34, 35–55), seven studies were cross-sectional (18, 19, 23, 24), and two studies had combined design, cross-sectional, and case-control (21, 22). Homozygosity for the C282Y mutation conferred the highest risk for both provisional and documented iron overload (Figure 2 and Supplementary Table 2) and accounted for the majority of iron overload cases in all studies (37.2%) (Supplementary Table 1).

View all citing articles on Scopus

07/31/97

f1

Reprint requests to: Gavin Willis, Ph.D., Department of Molecular Genetics, Norfolk and Norwich Hospital, Brunswick Road, Norwich, NR1 3SR, UK, phone 01603 287068, fax 01603 286928, email: [email protected]

View full text