Genetics of haemochromatosis

Baillieres Clin Haematol. 1994 Dec;7(4):903-18. doi: 10.1016/s0950-3536(05)80130-1.


This review is largely concerned with the frequency of genetic haemochromatosis (GH) and attempts to find the gene responsible. Studies of disease prevalence are reviewed along with the association of GH with other inherited disorders. The high prevalence of the disorder found in a number of surveys of populations of European origin along with the relatively few patients presenting with the clinical features of the advanced disease remains a paradox. The tight linkage between HLA-A and GH has been known since 1975 but it has not been possible to distinguish between a telomeric or centromeric location for the gene (HFE) relative to HLA-A. The recent explosion in detailed knowledge of the genetic map of the region telomeric of HLA-A on chromosome 6p has made it possible to examine new genetic markers. The very strong association between GH and D6S105-8 suggests a gene location telomeric to HLA-A. The lack of a precise location, and uncertainty about either the primary biochemical abnormality or the tissues involved has delayed the identification of the gene but expressed genes in the region around HLA-A are now being isolated and tested.

Publication types

  • Review

MeSH terms

  • Alleles
  • Chromosome Mapping
  • Female
  • Gene Frequency
  • Genes, MHC Class I / genetics
  • Genetic Linkage
  • HLA Antigens / genetics
  • HLA-A3 Antigen / genetics
  • Haplotypes
  • Hemochromatosis / epidemiology
  • Hemochromatosis / etiology
  • Hemochromatosis / genetics*
  • Humans
  • Iron / metabolism
  • Male


  • HLA Antigens
  • HLA-A3 Antigen
  • Iron