The association of the -158 XmnI γG globin polymorphism with HbF level in sickle cell anemia Sudanese Patients | ||
| Journal of Bioscience and Applied Research | ||
| Article 5, Volume 8, Issue 1, March 2022, Pages 77-81 PDF (401.22 K) | ||
| Document Type: Original Article | ||
| DOI: 10.21608/jbaar.2022.225891 | ||
| Authors | ||
| Rajaa Abo Elgasim Osman Mohammed* ; Nour Mahmoud Abdelateif Ali | ||
| Department of Hematology, Faculty of Medical Laboratory Sciences, Alneelain University, Khartoum, Sudan | ||
| Abstract | ||
| Background: Sickle cell hemoglobinopathy is a genetic disorder caused by the presence of hemoglobin S (HbS), γG-158 (C→T) polymorphism plays an important function in the disease severity of sickle cell anemia, The XmnI restriction site at -158 position of the γG-gene is associated with increased expression of the γG-globin gene and higher production of HbF, Previous studies have suggested that a variety of genetic determents influence different clinical phenotypes. The genetic variants that modulate HbF levels have a very strong impact on ameliorating the clinical phenotype.Aim: This study aims to associate between Xmn1 (…γG-158 C→T …) polymorphism and fetal hemoglobin level among Sudanese patients with SCA.Materials and methods: In this descriptive cross-sectional study 60 blood samples from diagnostic cases were analyzed using a Hematology analyzer (Sysmex KX21N), capillary electrophoresis (MINICAP), using “G-spin™ Total DNA Extraction Kit”, PCR-RFLP techniques. Results: Patients with SCA were analyzed for Xmn1 polymorphism and association between this polymorphism and severity of SCA was evaluated, the presence of one XmnI (+/-) site CT 2% in SS patients compared with XmnI-/- site CC98% had shown difference regarding HbF level, thus the Polymorphic association was founded. Conclusion: In our descriptive cross-sectional study we concluded that the effect of the polymorphism on the Hb F level was established. | ||
| Keywords | ||
| SCA: Sickle Cell Anemia; γG-158 C→T; HbF: Fetal Hemoglobin | ||
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