TITLE:
Genetic Polymorphisms of HBS1L-MYB (rs4895441 and rs9376090) in Egyptian Patients with Hemoglobinopathy
AUTHORS:
Thoria A. Omar, Emad F. Abd-Elhalim, Rawhia H. Eledel, Mohamed A. Soliman, Fatma S. Ebeid, Ola H. Elshafey, Dalia H. Abou-Elela
KEYWORDS:
Hemoglobinopathy, Beta-Thalassemia, Sickle Cell Disease, HBS1L-MYB Polymorphism, Polymerase Chain Reaction
JOURNAL NAME:
Open Journal of Blood Diseases,
Vol.10 No.4,
December
1,
2020
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.