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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Bibliographic Details
Published inAnnals of hematology Vol. 84; no. 2; pp. 99 - 102
Main Authors Bauduer, F, Scribans, C, Degioanni, A, Renoux, M, Dutour, O
Format Journal Article
LanguageEnglish
Published Germany Springer Nature B.V 01.02.2005
Springer Verlag
Subjects
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
France
Europe
France epidemiology
Hemochromatosis epidemiology
Gene Frequency
Middle Aged
Genetic
Genotype
Male
Molecular
Basques
Population genetics
Epidemiology
Genetic hemochromatosis
Europe epidemiology
C282Y
Female
Aged
Mutation
genetics Humans
Missense
H63D
Polymorphism
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Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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ISSN:0939-5555
1432-0584
DOI:10.1007/s00277-004-0957-5