Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload

Hum Genet. 2002 Dec;111(6):538-43. doi: 10.1007/s00439-002-0824-1. Epub 2002 Sep 26.


In northern Europe, about 90% of patients with hereditary haemochromatosis (HH) are homozygous for a single mutation (C282Y) of the HFEgene and approximately 1 in 150 people in the general population carries this genotype. However, the clinical significance of HFE mutations remains uncertain, as is the proportion of people homozygous for C282Y who will develop clinical symptoms leading to a diagnosis of HH. A systematic review of patients with HH over a 2-year period within a defined UK region has revealed that only 1.2% of adult C282Y homozygotes have been diagnosed with iron overload and received treatment. In those in whom body iron load could be estimated, only 51% has more than 4 g iron (the diagnostic threshold for iron overload).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Female
  • Hemochromatosis / genetics*
  • Hemochromatosis / metabolism
  • Hemochromatosis / pathology
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics
  • Homozygote*
  • Humans
  • Iron / metabolism*
  • Male
  • Membrane Proteins / genetics
  • Middle Aged
  • Phenotype
  • Wales


  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Iron