Association between the Ssp1 loci of intron II beta globin gene with Beta Thalassemia-traits

BACKGROUND: Thalassemia is a common hereditary disorder of hemoglobin synthesis. In this study, the polymorphism of the site of Ssp1 intron II of β-globin gene was investigated in patients with thalassemia minor who referred to laboratory centers in Sanandaj and Marivan townships in Iran. METHODS: This was an analytical cross-sectional study. Initially, the questionnaires were completed to obtain the data. Based on complete blood count (CBC) and hemoglobin electrophoresis, carriers were diagnosed. Deoxyribonucleic acid (DNA) extraction was performed by the salting out method from all blood samples. The polymorphism of the Ssp1 loci of intron II beta globin gene was evaluated using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method with the effect of Ssp1 restriction enzyme on all DNA samples. RESULTS: The results showed that of the 200 individuals or 400 chromosomes examined, 166 individuals (78 and 88% in cases and controls, respectively) were positive for SspI position and 34 individuals (22 and 12% in cases and controls, respectively) were negative. Additionally, statistical analysis suggested no significant relationship between these two groups in SspI position (OR = 0.483, P = 0.189). CONCLUSION: The polymorphism of SspI locus in this case study is informative of Kurdish population