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The rare codon 24 (T>A) (beta+) mutation in association with the common codon 39 (C> T) (beta0) mutation causes
Imane Agouti1, Mohcine Bennani, Nicolas Levy
1Laboratoire de Biologie Appliquee, Faculte des Sciences et Techniques, Tanger, Maroc. imaneagouti@yahoo.fr
Abstract:
We present the rare codon 24 (T > A) (beta(+)) mutation causing transfusion-dependent beta-thalassemia (beta-thal) in combination with the common codon 39 (C > T) (beta(0)) defect in a Moroccan boy. We report the characterization of the mutation, phenotype, haplotype and possible origin of the first case in Morocco and discuss the significance of this genotype combination with a beta(0) defect.
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