Association of plasminogen activator inhibitor (PAI) gene polymorphism and the severity of sickle cell disease SCD /
Abeer Shehata Mohamed
Association of plasminogen activator inhibitor (PAI) gene polymorphism and the severity of sickle cell disease SCD / رابطة تعدد الأشكال الجينية للبلازمينوجين المنشط و شدة مرض فقر الدم المنجلى Abeer Shehata Mohamed ; Supervised Rasha Abdelraouf Abdelaziz , Iman Abdelmohsen Shaheen , Mohamed Abdallah Abdelmegied Abdallah - Cairo : Abeer Shehata Mohamed , 2021 - 185 P. : charts , facsimiles ; 25cm
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 outpatients clinic and hematology department of Cairo University Childrens 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)
PAI-1 Polymorphism SCD
Association of plasminogen activator inhibitor (PAI) gene polymorphism and the severity of sickle cell disease SCD / رابطة تعدد الأشكال الجينية للبلازمينوجين المنشط و شدة مرض فقر الدم المنجلى Abeer Shehata Mohamed ; Supervised Rasha Abdelraouf Abdelaziz , Iman Abdelmohsen Shaheen , Mohamed Abdallah Abdelmegied Abdallah - Cairo : Abeer Shehata Mohamed , 2021 - 185 P. : charts , facsimiles ; 25cm
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 outpatients clinic and hematology department of Cairo University Childrens 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)
PAI-1 Polymorphism SCD