Author(s)

Thoria A. Omar¹, Emad F. Abd-Elhalim¹, Rawhia H. Eledel¹, Mohamed A. Soliman¹, Fatma S. Ebeid², Ola H. Elshafey¹, Dalia H. Abou-Elela¹

¹Clinical Pathology Department, Faculty of Medicine, Menoufia University, Shibin El Kom, Egypt.
²Pediatric Department, Faculty of Medicine, Ain Shams University, Ain Shams, Egypt.

Objective: Study the HBS1L-MYB (rs4895441 and rs9376090) genetic polymorphisms in Egyptian patients with β-thalassemia major and sickle cell disease and its relation to Hb F and severity of the disease. Background: Hb F is a predominant modulator for the severity of β-thalassemia major & sickle cell disease. Genetic polymorphism in the intergenic region (HBS1L-MYB) between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on chromosome 6q is associated with high fetal hemoglobin levels. Subjects and Methods: 150 subjects were included in this study. For all studied groups: Complete blood picture and serum ferritin were evaluated. For patients, hemoglobin variants were separated by High-performance liquid chromatography. Genotyping of HBS1L-MYB (rs4895441 & rs9376090) was evaluated by real-time polymerase chain reaction technique using TaqMan probe. Results: AG, CT genotypes, and G, C alleles of HBS1L-MYB (rs4895441 & rs9376090) were significantly high in sickle cell patients [OR (3.400); 95% C.I (1.482 - 7.799)], (p = 0.003) & [OR (4.522); 95% C.I (1.854 - 11.029)], (p = 0.001) respectively. Also, a significant association was detected between polymorphisms and disease severity. However, in β-thalassemia major, no significant association was detected. Conclusion: In sickle cell disease patients, Genetic polymorphisms in HBS1L-MYB (rs9376090 & rs4895441) affect the level of Hb F which could improve the prognosis of these patients.

Hemoglobinopathy, Beta-Thalassemia, Sickle Cell Disease, HBS1L-MYB Polymorphism, Polymerase Chain Reaction

Omar, T. , Abd-Elhalim, E. , Eledel, R. , Soliman, M. , Ebeid, F. , Elshafey, O. and Abou-Elela, D. (2020) Genetic Polymorphisms of HBS1L-MYB (rs4895441 and rs9376090) in Egyptian Patients with Hemoglobinopathy. Open Journal of Blood Diseases, 10, 89-100. doi: 10.4236/ojbd.2020.104011.