Association of BCL11A Gene Polymorphism in Human Cells of Thalassemia Patient by Evaluation of Amplification Refractory Mutation System (ARMS)

Abstract

Thalassemia is an autosomal recessive disorder. It occurs due to mutations that lead to a decrease or absence of β-globin chains. In human erythroid cells, it was found that BCL11A acts as a crucial factor for the silence of the γ-globin gene and can decrease fetal hemoglobin (HbF) while promoting adult hemoglobin (HbA). This study was designed to evaluate the relationship between the BCL11A gene polymorphism and its effect on patients with β-thalassemia major and, secondly. The whole blood DNA was extracted and an amplified gene was used for the ARMS-PCR technique. The results revealed the presence of two alleles A and C as well as three genotypes AA, AC, and CC in β-thalassemia. ARMS-PCR was examined by frequencies 0.3, 0.6, and 0.1, respectively, as well as in control 0.1, 0.8, and 0.1, respectively. The frequency of the two alleles A and C was investigated in patients A (56), C (44), as for the control A (52) and C (48). The nucleotide sequencing was done for this gene. The BCL11A gene polymorphism rs766432A > C was found in all patients at the (A65664C) site, according to the sequencing results.