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Beta-thalassemia intermedia due to two novel mutations in the promoter region of the beta-globin gene.

Agouti I, Bennani M, Nezri M, Levy N, Badens C

Laboratoire de Biologie Appliquée, Faculté des Sciences et Techniques, Tanger, Maroc. imaneagouti@yahoo.fr

Two novel beta-thalassemia mutations affecting the promoter region of the beta-globin gene are described. The first mutation, found in a Moroccan family, is a G-->A substitution at position -190 relative to the beta-globin gene Cap site. The second, found in an Algerian patient, is a G-->C substitution at position -56 relative to the beta-globin Cap site. These two mutations occur in a region (-50 to -300) where promoter elements important for differential control of gene expression have been described and lead to beta-thalassemia intermedia in association with a beta(0)-thalassemia mutations.

Published 7 March 2008 in Eur J Haematol, 80(4): 346-50.
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