Association between BCL11A , HSB1L-MYB and XmnIÞ G-158 (C/T)gene polymorphism and hemoglobin F level in Egyptian sickle cell disease patients /
في مرضى فقر الدم المنجلي المصريين Hb Fومستوى الهيموجلوبين إف BCL11A , HSB1L-MYB ,Xmn1 ÞG-158 (C/T) العلاقة بين التنوع الجينى للجينات
Erini Mikhael Abdalmaseh Aziz ; Supervised Mona Kamal Elghamrawy , Mervat Mamdooh Khorshied , Marwa Abdelhady Abdelsamad
- Cairo : Erini Mikhael Abdalmaseh Aziz , 2018
- 167 P. : charts , facsimiles ; 25cm
Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics
Background: Sickle cell disease (SCD) is a monogenic disease associated with multisystem morbidity . Clinical severity of SCD is extremely variable, and reasons for this heterogeneity are not fully understood. Inter-individual variation in hemoglobin F (HbF) level is likely one of the main modifiers that contribute to the clinical heterogeneity observed in SCD patients as it inhibits HbS polymerization and reduces the mean corpuscular HbS concentration . Previous studies showed association of variants at 3 major genomic loci with HbF levels. Aims: To investigate the prevalence of BCL11A (rs11886868), HSB1L-MYB (rs9382268) and Xmn I ÞG-158 (C/T) genetic polymorphisms in a cohort of Egyptian SCD patients and to clarify the possible association between these polymorphisms and HbF level before and after hydroxyurea (HU) therapy. Methods: One hundred Egyptian SCD patients (53 females) with a mean age of 13.68±8.91 years followed up at Pediatric Hematology and BMT Unit, Children Hospital, Cairo University were enrolled. Hundred age and sex matched unrelated healthy children were included as a control group. Genotyping of the studied single nucleotide polymorphisms (SNPs) was performed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay. Informed consents were obtained from the parents or legal guardians of patients before enrollment and the study was approved by the Research Ethics Committee of Faculty of Medicine, Cairo University