Identification of an IVS1-2 (T>G) mutation causing major beta thalassemia in a Mauritanian family.

Abstract

Introduction : After sickle cell anemia, Beta‑thalassemia are the most common hemoglobin disorders in Mauritania with an overall prevalence of around 2%. Patients and methods : Proband is a 9‑year‑old boy with severe, poorly tolerated anemia associated with signs of hemolysis (jaundice, splenomegaly). The genetic mutation was sought by direct sequencing of the DNA of the patient and his parents. The search for haplotypes associated with this betathalassemic mutation was carried out by the PCR / RFLP technique. Results : Using Sanger direct sequencing, we identi ied an IVS1‑2 (T >G (T> G) substitution at codon 1 of the beta hemoglobin gene in 3 individuals from a Mauritanian family. The mutation was heterozygous in the normal parents and present in homozygous state in the proband who carried clinical signs and hematological parameters consistent with beta thalassemia major. Conclusion : This result can be used as part of an early haemoglobinopathies diagnosis program for better patient care and appropriate genetic counseling. Our results also con irm the multiethnic character of the Mauritanian population