Genetic hemochromatosis is a rare disease entity among French Basques: a center-based study from the general hospital of Basque County

Ann Hematol. 2001 Aug;80(8):472-3. doi: 10.1007/s002770100326.

Abstract

A center-based study from the general hospital of Basque country has been performed to evaluate the importance of genetic hemochromatosis among French Basques. A sample of 37 patients from 34 families fulfilling the diagnosis criteria of hemochromatosis was obtained. Only four of them were of Basque origin: two homozygotes for C282Y, one homozygote for H63D, and one heterozygote for C282Y. These results suggest a significant lower prevalence of genetic hemochromatosis in Basques than in people from other French regions (P=0.001). They underline further the biological specificity of this population.

MeSH terms

  • Adult
  • Aged
  • Female
  • France / ethnology
  • Genetics, Population
  • Hemochromatosis / epidemiology*
  • Hemochromatosis / genetics*
  • Humans
  • Incidence
  • Male
  • Middle Aged
  • Mutation