Identification of four common α-thalassemia gene deletions among a group with hemoglobinopathies in Sétif population, Algeria

Abstract

Abstract α-Thalassemia (α-thal) is one of the most common genetic disorders in the world. It is characterized by the absence or reduced expression of α-globin genes. This study was carried out to evaluate the allelic frequency of α-thal defects in a patient for the first time in Sétif (Algeria). One hundred and two patients with hemoglobinopathies from Sétif region, Algeria, presenting thalassemia were included in this study. Genomic DNA isolation was carried out according to standard methods. For identifying the α-thal genotype, investigation of α-globin gene deletions (-α3.7, -α4.2, -MED and -α20.5) was performed by using multiplex-polymerase chain reaction (PCR). Among the three deletions found, the most mutations were the -α3.7 (10.78%), followed by the -MED (5.88%) and -α20.5 (0.98%), whereas the -α4.2 deletion was not observed (0.0%). The allele frequency is 0.054 (11/204) for the 3.7 deletion, 0.029 (6/204) for the MED and 0.005 (1/204) for the 20.5. Molecular heterogeneity of mutations is typical of α-thal in Algeria. Our findings will be valuable and essential for the molecular diagnosis and prevention strategies of hemoglobinopathy gene mutations in the Algerian population.