Genetic Polymorphisms of HBS1L-MYB (rs4895441 and rs9376090) in Egyptian Patients with Hemoglobinopathy

• 作者: Dalia H. Abou-Elela Emad F. Abd-Elhalim Fatma S. Ebeid Mohamed A. Soliman Ola H. Elshafey Rawhia H. Eledel Thoria A. Omar
• 来源期刊: 血液病期刊(英文)
• 学科: 医学
• 关键词: HEMOGLOBINOPATHY BETA-THALASSEMIA Sickle Cell Disease HBS1L-MYB Polymorphism Polymerase Chain Reaction
• 年，卷（期）: 2020,（4）
• 页码范围: 89-100
• 页数: 12页
• 分类号: R73

摘要

<b><span style="font-family:Verdana;">Objective:</span></b><span style="font-family:;" "=""><span style="font-family:Verdana;"> Study the HBS1L-MYB (rs4895441 and rs9376090) genetic polymorphisms in Egyptian patients with </span><i><span style="font-family:Verdana;">β</span></i><span style="font-family:Verdana;">-thalassemia major and sickle cell disease and its relation to Hb F and severity of the disease. </span><b><span style="font-family:Verdana;">Background:</span></b><span style="font-family:Verdana;"> Hb F is a predominant modulator for the severity of </span><i><span style="font-family:Verdana;">β</span></i><span style="font-family:Verdana;">-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. </span><b><span style="font-family:Verdana;">Subjects and Methods:</span></b><span style="font-family:Verdana;"> 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. </span><b><span style="font-family:Verdana;">Results:</span></b><span style="font-family:Verdana;"> 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%</span></span><span style="font-family:;" "=""> </span><span style="font-family:;" "=""><span style="font-family:Verdana;">C.I (1.854 - 11.029)], (p = 0.001) respectively. Also, a significant association was detected between polymorphisms and disease severity. However, in </span><i><span style="font-family:Verdana;">β</span></i><span style="font-family:Verdana;">-thalassemia major, no significan