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  1. Genotype of subjects with bordeline hemoglobin A2 levels : implication for bêta-thalassemia carrier screening.

    Article - En anglais

    In this study, we have defined by molecular analysis, the alpha, bêta, and delta globin genotype in a group of individuals with normal or thal-like red cell indices but borderline hemoglobin (Hb) A2 levels, who were identified in a program for bêta-thal carrier screening.

    In 37 of 125 individuals with borderline HbA2 levels, we detected a molecular defect in the bêta, in both the delta and the bêta, or in the alpha globin gene.

    Specifically seven of these subjects were carriers of the - 101 C T mutation, ten of the IVSI nt6 T C mutation, 16 were double heterozygotes for delta and bêta thal, and two had the triple alpha globin gene and two the single alpha globin gene deletion.

    Mots-clés Pascal : Thalassémie, Hétérozygotie, Porteur, Dépistage, Sardaigne, Italie, Europe, Hémoglobine A2, Génotype, Homme, Hémopathie, Anémie hémolytique, Hémoglobinopathie, Maladie héréditaire

    Mots-clés Pascal anglais : Thalassemia, Heterozygozity, Carrier, Medical screening, Sardinia, Italy, Europe, Hemoglobin A2, Genotype, Human, Hemopathy, Hemolytic anemia, Hemoglobinopathy, Genetic disease

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

    Cote : 94-0466237

    Code Inist : 002B19A01. Création : 199501.