The Rare Codon 24 (T>A) (β⁺) Mutation in Association with the Common Codon 39 (C> T) (β⁰) Mutation Causes Transfusion-Dependent β-Thalassemia in a Moroccan Patient

Imane Agouti Laboratoire de Biologie Appliquée, Faculté des Sciences et Techniques, Tanger, MarocCorrespondence[email protected]

Mohcine Bennani Laboratoire de Biologie Appliquée, Faculté des Sciences et Techniques, Tanger, Maroc

Nicolas Levy Centre d'Enseignement et de Recherche en Génétique Médicale, Unité INSERM U 910, Faculté de Médecine, Marseille, France

Piero Giordano The Hemoglobinopathies Laboratory, Leiden University Medical Center, Leiden, the Netherlands

Catherine Badens Centre d'Enseignement et de Recherche en Génétique Médicale, Unité INSERM U 910, Faculté de Médecine, Marseille, France

Abstract

We present the rare codon 24 (T > A) (β⁺) mutation causing transfusion-dependent β-thalassemia (β-thal) in combination with the common codon 39 (C > T) (β⁰) 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 β⁰ defect.

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The Rare Codon 24 (T>A) (β⁺) Mutation in Association with the Common Codon 39 (C> T) (β⁰) Mutation Causes Transfusion-Dependent β-Thalassemia in a Moroccan Patient

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The Rare Codon 24 (T>A) (β+) Mutation in Association with the Common Codon 39 (C> T) (β0) Mutation Causes Transfusion-Dependent β-Thalassemia in a Moroccan Patient

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The Rare Codon 24 (T>A) (β⁺) Mutation in Association with the Common Codon 39 (C> T) (β⁰) Mutation Causes Transfusion-Dependent β-Thalassemia in a Moroccan Patient