Omar, Thoria A. and Abd-Elhalim, Emad F. and Eledel, Rawhia H. and Soliman, Mohamed A. and Ebeid, Fatma S. and Elshafey, Ola H. and Abou-Elela, Dalia H. (2020) Genetic Polymorphisms of HBS1L-MYB (rs4895441 and rs9376090) in Egyptian Patients with Hemoglobinopathy. Open Journal of Blood Diseases, 10 (04). pp. 89-100. ISSN 2164-3180
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Abstract
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.
Item Type: | Article |
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Subjects: | Euro Archives > Medical Science |
Depositing User: | Managing Editor |
Date Deposited: | 21 Apr 2023 04:35 |
Last Modified: | 01 Feb 2024 03:49 |
URI: | http://publish7promo.com/id/eprint/2241 |