title: Distribution of the C282Y and H63D polymorphisms in hereditary hemochromatosis patients from the French Basque Country.
abstract: The distribution of HFE mutations was studied in patients from the French Basque Country with hereditary hemochromatosis (HH). The C282Y mutation was underrepresented but H63D seemed to demonstrate the highest prevalence when compared with other European countries. In addition, symptomatic HH was rarer in autochthonous Basques. This profile is interesting to consider in view of population genetics and should be associated with the search for non-HFE mutations.
authors.affiliation: Department of Hematology, CH Côte Basque, 64100, Bayonne, France. fbauduer001@chcb.rss.fr
authors.forename: F
authors.initials: F
authors.lastname: Bauduer
authors.forename: C
authors.initials: C
authors.lastname: Scribans
authors.forename: A
authors.initials: A
authors.lastname: Degioanni
authors.forename: M
authors.initials: M
authors.lastname: Renoux
authors.forename: O
authors.initials: O
authors.lastname: Dutour
mesh_terms: D000328:Adult; D000368:Aged; D005060:Europe / Q000453:epidemiology; D005260:Female; D005602:France / Q000453:epidemiology; D005787:Gene Frequency; D005838:Genotype; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D017720:Molecular Epidemiology; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D015995:Prevalence