Celtic origin of the C282Y mutation of hemochromatosis

Genet Test. 2000;4(2):163-9. doi: 10.1089/10906570050114876.


The main hereditary hemochromatosis mutation C282Y in the HFE gene was recently described, and the C282Y frequencies were reported for various European populations. The aim of this synthesis is to compile the Y allele frequencies of the C282Y mutation for 40 European populations. The most elevated values are observed in residual Celtic populations in Ireland, the United Kingdom, and France, in accordance with the hypothesis of Simon et al. (1980) concerning a Celtic origin of the hereditary hemochromatosis mutation.

MeSH terms

  • Alleles
  • Europe
  • Gene Frequency
  • Hemochromatosis / ethnology*
  • Hemochromatosis / genetics*
  • Humans
  • Mutation*