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

Issued also as CD