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  1. The spectrum of bêta-thalassaemia in Algeria : possible origins of the molecular heterogeneity and a tentative diagnostic strategy.

    Article - En anglais

    We report here on the final results of an epidemiological survey involving 177 bêta-thalassaemic chromosomes in Algeria.

    Four common mutations account for 86% of the chromosomes, the other ones carrying nine other rare mutations.

    Combination of these results with those of other smaller regional epidemiological studies indicates the existence of still a wider range of mutations.

    The nature and frequencies of these mutations, their linkage with RFLP-haplotypes, agree well with the history of the region.

    Knowledge of this spectrum of mutations enables the design of a diagnosis strategy that takes into account the local economical constraints.

    Mots-clés Pascal : Thalassémie bêta, Hétérogénéité, Algérie, Afrique, Mutation, Chromosome, Hémopathie, Anémie hémolytique, Hémoglobinopathie, Maladie héréditaire, Diagnostic, Epidémiologie, Homme

    Mots-clés Pascal anglais : bêta-Thalassemia, Heterogeneity, Algeria, Africa, Mutation, Chromosome, Hemopathy, Hemolytic anemia, Hemoglobinopathy, Genetic disease, Diagnosis, Epidemiology, Human

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

    Cote : 93-0487314

    Code Inist : 002B19A01. Création : 199406.