Association of mannose-binding lectin promoter gene polymorphism with frequency of vaso-occlusive events in sickle cell disease patients : An Egyptian study / Gehad Atef Abdelmaksoud Elsayed ; Supervised Nesrine Elgharbawi , Mona , Elghamrawy , Amal Soliman

Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Background:Sickle cell disease (SCD) represents heterogeneous clinical manifestations that cannot be explained solely by alterations to hemoglobin (Hb); other components such as endothelial adhesion, thrombosis, and inflammation may be involved. Genotypes with low serum Mannose-binding lectin (MBL) levels could lead to an increase in the incidence of inflammation of blood vessels, which may contribute to the development of Vaso-occlusion (VOC) especially in SCD patients. Furthermore, patients with MBL deficiency may show additional deficiency of the phagocytic activity, which may lead to accumulation of sickled erythrocytes on vessel walls and reduced capacity for combating infectious agents. In this perspective, the adherent erythrocytes and endothelium infection may contribute to the VOC episode. Objectives: To study the distribution of MBL promoter gene polymorphisms among the studied SCD patients and to describe the association between MBL promoter gene polymorphism and serum level of MBL.To find out if there is an association between the frequencies of Vaso-occlusive events in sickle cell disease patients and both MBL promoter gene polymorphism and serum level. Methods:Genotyping of MBL promoter (-221) rs7096206 X/Y and (-550) rs10031251 H/L polymorphisms was tested by PCR amplification of the target genes followed by Restriction Fragment Length Polymorphism (RFLP) technique. Serum MBL level was also assayed by ELISA technique with values <500ng/ml considered deficient

Issued also as CD