Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Introduction: Sickle cell disease (SCD) comprises a group of hemolytic anemias characterized by a complex pathophysiology. The clinical manifestations of SCD result from chronic hemolytic anemia and the development of vaso-occlusive events. An increased risk for arterial thrombosis has been associated with low fibrinolytic activity related to raised plasma levels of plasminogen activator inhibitor 1 (PAI-1). Objective: To evaluate the incidence of plasminogen activator inhibitor 1 polymorphism 4G/5G (-675 pb 4G/5G) in chromosome (7q22.1 - rs1799889) among a group of Egyptian sickle cell disease pediatric patients and its relation to clinical and laboratory presentation of the studied patients. Patients and methods: This is a cross-sectional study that was carried out on 105 Sickle cell disease patients from Hematology outpatient{u2019}s clinic and hematology department of Cairo University Children{u2019}s Hospital. Detailed history, physical examination, and laboratory investigationswere documented.Blood samples was collected and DNA extracted according to standard protocols.The PAI-1 4G/5G polymorphism was evaluated.Results: Fifty-eight % of the study patients were more males (58.1%)and the highest density of patients were living in Giza (41%). The percentage of patients with SS phenotype was higher (54.4%). Anemia was the most common presentation of SCD (56.2%) and all patients had VOC as a complication of SCD. According to severity patients were more likely to have moderate to severe disease (34.3% & 37.1%). The wild form of PAI-1 gene polymorphism (4G/4G) was the most common among patients with SCD. When comparing the three different type of PAI-1 gene polymorphism we found that a higher number of patients with the homozygous form (5G/5G) had leg ulcers (P = 0.049) and elevated liver enzymes (P = 0.006), and a higher number of patients with heterozygous form (4G/5G) had pulmonary hypertension and LV dilatation (P = 0.028),while the highest number of abnormal TCD was in the wild form (4G/4G), but with no statistical significant (p value= 0,076)

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