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  1. Frequency of delta+27-thalassaemia in Sardinians.

    Article - En anglais

    To determine the incidence of delta+27 thalassaemia in Northern Sardinia we examined blood samples from 750 Sardinian schoolboys by PCR-based molecular analysis.

    The incidence of delta+27 mutation was 1.2% in this study, i.e. twice as high as previously described on the basis of phenotypical studies ; the frequency of the bêta-thalassaemia is 10.5% and their interaction has been calculated at 0.0003.

    The majority of delta+27 carriers are characterized by a HbA2 level lower than 1.9% and the mean HbA2 level is significantly lower than in normal subjects.

    All compound heterozygotes for delta+27 and bêta-thalassaemia show a silent bêta-thalassaemic phenotype related to normalization of their HbA2 levels.

    This study suggests that delta+27 thalassaemia should be borne in mind in counselling at-risk couples in which one member has the typical high HbA2 bêta-thal trait while the other shows normal or borderline HbA2 level.

    In these subjects, PCR-based ECO 0 109 I digestion of the delta globin gene allows rapid detection of the delta+27 mutation.

    Mots-clés Pascal : Thalassémie, Chaîne peptidique delta, Mutation ponctuelle, Incidence, Epidémiologie, Etudiant, Sardaigne, Italie, Europe, Enfant, Homme, Adolescent, Hémopathie, Anémie hémolytique, Hémoglobinopathie, Maladie héréditaire, Thalassémie delta

    Mots-clés Pascal anglais : Thalassemia, Delta-Peptide chain, Point mutation, Incidence, Epidemiology, Student, Sardinia, Italy, Europe, Child, Human, Adolescent, Hemopathy, Hemolytic anemia, Hemoglobinopathy, Genetic disease

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

    Cote : 97-0177263

    Code Inist : 002B19A01. Création : 21/05/1997.



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