Distribution of the C282Y and H63D polymorphisms in hereditary hemochromatosis patients from the French Basque Country

Frédéric Bauduer (1, 2) , Cédric Scribans (3) , Anna Degioanni (1) , Michel Renoux (2) , Olivier Dutour (1)

1 UAABC - Anthropologie Bio-Culturelle
2 Department of Hematology
3 Biostatistics

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

Mots clés: Polymorphism; Genetic hemochromatosis; C282Y; H63D; Basques; Population genetics; Genetic; Aged; Epidemiology; Molecular; Europe epidemiology; Female; France epidemiology; Gene Frequency; Genotype; Hemochromatosis epidemiology; genetics Humans; Male; Middle Aged; Mutation; Missense

Domaines: Anthropologie biologique

Frédéric Bauduer, Cédric Scribans, Anna Degioanni, Michel Renoux, Olivier Dutour. Distribution of the C282Y and H63D polymorphisms in hereditary hemochromatosis patients from the French Basque Country. Annals of Hematology, 2005, 84 (2), pp.99-102. ⟨10.1007/s00277-004-0957-5⟩. ⟨halshs-00008121⟩