Allele frequencies of hereditary hemochromatosis gene mutations in a local population of west Brittany.

Hereditary hemochromatosis (HH) gene mutations, C282Y and H63D, have been screened in a cohort of 254 presumably healthy persons originating from a western region of France. The carrier frequencies of these mutations and the incidence of HH have been estimated and compared with those of other studies. This cohort contains two C282Y/C282Y genotypes and has the highest C282Y heterozygosity frequency (17.46%) ever reported.