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

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

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 ra...

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Veröffentlicht in:Annals of hematology 2005-02, Vol.84 (2), p.99-102
Hauptverfasser: Bauduer, F, Scribans, C, Degioanni, A, Renoux, M, Dutour, O
Format: Artikel
Sprache:eng
Schlagworte:
Adult
Aged
Biological anthropology
Europe - epidemiology
Female
France - epidemiology
Gene Frequency
Genotype
Hemochromatosis - epidemiology
Hemochromatosis - genetics
Humanities and Social Sciences
Humans
Iron
Male
Middle Aged
Molecular Epidemiology
Mutation
Mutation, Missense
Polymorphism, Genetic
Prevalence
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Beschreibung
Zusammenfassung: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.
ISSN:0939-5555
1432-0584
DOI:10.1007/s00277-004-0957-5