Molecular Characterization of β-Thalassemia Patients in Wasit Province, IRAQ

Abstract

Background: Hemoglobin-associated disorder is a different group of recessive genetic diseases. which consist of the structural hemoglobin variants and the thalassemia.Aim of the study: - to characterize the spectrum of beta globin gene mutations  in patients with beta- thalassemia who are registered in thalassemia centers, Wasit, Iraq using PCR - based DNA diagnostic techniques.Patients and methods:The genomic DNA was extracted from 106 Iraqi patients with β-thalassemia major and intermedia from unrelated families and (50) healthy numbers as control were collected from Al-Karama  Teaching Hospital, in Wasit  province, to detect mutation using PCR - based DNA diagnostic techniques. .  Results: of 106 thalassemia patients, 35 (33%) of patients with no mutation detection, IVS 1.116 [T>G] mutation was detected in 42 patients ( 39.6%), followed by IVS 1.110 [G>A], which was detected in 11 (10.4%) patients.Conclusions: Many mutations recorded a high frequency due to close relative marriage. By analyzing many mutations in β-globin gene leading to defect in beta chains play crucial role in drawing mutation frequency and their distribution in our society.

Keywords: thalassemia, mutation, DNA