Molecular heterogeneity of β-thalassemia variants in the Eastern region of Morocco.

ABSTRACT:

Background

β-thalassemia syndromes are the most common hereditary blood disorders in the world and are recognized as a major health problem in Morocco. They are characterized by the reduction or the absence of β-globin chain synthesis. The severity of the disease depends on the nature of the variants affecting the β-globin gene (HBB), and each ethnic group has its own mutation spectrum. Hereby, we present, for the first time, the molecular profile of β-thalassemia in the Eastern region of Morocco.

Methods

This study concerns 39 cases from 33 families who were enrolled in the BRO Biobank. Nineteen were diagnosed with β-thalassemia major and 20 with β-thalassemia minor. To detect mutations of the β-globin gene, we have used RFLP-PCR and Sanger sequencing.

Results

Nine k

SUBMITTER: Belmokhtar I 

PROVIDER: S-EPMC9356555 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature