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  1. Genetic epidemiology of bêta-thalassemia in Sicily : do sequences to 5' to the Ggamma gene and 5' to the bêta gene interact to enhance HbF expression in bêta-thalassemia ?

    Article - En anglais

    The present epidemiological study of the molecular characteristics of bêta-thalassemia in Sicily was prompted by the disparate phenotypic expression (in clinical status and absolute HbF level) observed in two bêta-thalassemic homozygotes who were also homozygous for the bêta-like globin gene cluster haplotype III.

    We suspected that polymorphisms within haplotype III could be the cause for the discrepancy.

    Mots-clés Pascal : Thalassémie bêta, Interaction génique, Chaîne peptidique bêta, Chaîne peptidique gamma, Hémoglobine foetale, Haplotype, Epidémiologie, Sicile, Italie, Europe, Hémoglobinopathie, Maladie héréditaire, Hémopathie, Génétique, Homme

    Mots-clés Pascal anglais : bêta-Thalassemia, Gene interaction, Beta-Peptide chain, Gamma-Peptide chain, Fetal hemoglobin, Haplotype, Epidemiology, Sicily, Italy, Europe, Hemoglobinopathy, Genetic disease, Hemopathy, Genetics, Human

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 92-0428985

    Code Inist : 002B19A01. Création : 199406.