The impact of BCL11A and HBS1L-MYB polymorphic markers in affected and carriers of beta thalassemia with high level of fetal hemoglobin in south of Iran, Khuzestan

Hamid, Mohammad; Barkhordari Bafghi, Nilofar; Shariati, Gholamreza; Galehdari, Hamid; Saberi, Alihossein; Sedaghat, Alireza

doi:10.22118/jsmj.2018.237122

The impact of BCL11A and HBS1L-MYB polymorphic markers in affected and carriers of beta thalassemia with high level of fetal hemoglobin in south of Iran, Khuzestan

Document Type : Original Article

Authors

Mohammad Hamid ¹

Nilofar Barkhordari Bafghi ¹

Gholamreza Shariati ²

hamid galehdari ³

Alihossein Saberi ⁴

Alireza Sedaghat ⁵

¹ Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran

² Narges Medical Genetics & PND Laboratory, Ahvaz ,Iran

³ Deptartment of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran

⁴ Department of Medical Genetic, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran

⁵ Narges Medical Genetics & PND Laboratory, Kianpars, Ahvaz ,Iran

10.22118/jsmj.2018.237122

Abstract

Background and Objective: The increase of HbF in some beta-thalassemia and sickle cell patients ameliorates the disease severity. Therefore, understanding the reasons behind the increasing of fetal hemoglobin is needful. The molecular explanation of fetal hemoglobin increment might be correlated with the genes which play a regulatory role in expression of beta-globin cluster genes. In this study, the polymorphisms of BCL11A and HBS1L-MYB regions are likely to cause HbFelevation were studied.
Subjects and Methods: In this investigation, 50 thalassemia patients with high level of fetal hemoglobin and 50 healthy individuals as control group were selected from Khuzestan. The allele frequency of rs28384513, rs766432, rs11886868 and rs4895441 polymorphisms were assessed by using PCR-RFLP and PCR- sequencing methods.
Results: the frequency of C allele in rs766432 (A/C), C allele in rs11886868 (C/T) and A allele in rs28384513 (A/C) were significantly high among the patients with increased level of HbF. Whereas, the frequency of rs4895441 (A/G) polymorphism had no significant differences compared with the patients with high level of HbF and control group.
Conclusion:
Based on this study, rs766432 (A/C), rs11886868 (C/T) and rs28384513 (A/C) polymorphisms are correlated with HbF increased and they can be used to predict the clinical features of fetus in case of bearing the major or intermediate forms of thalassemia. However, to confirm the results these markers need to be studied by applying a large number of samples.

Keywords

Beta-thalassemia

Fetal hemoglobin

Polymorphism