title: Apolipoprotein E gene polymorphism and the risk of left ventricular dysfunction among Egyptian β-thalassemia major.
abstract: In Egypt, β-thalassemia is the most common hereditary hemolytic anemia. Cardiac dysfunction, secondary to iron overload with formation of oxygen free radicals, is the most common cause of death in β-thalassemia patients. This study was designed to determine whether the allelic genotype of apolipoprotein E (Apo E), which exhibits antioxidant properties, could represent a genetic risk factor for the development of left ventricular (LV) dysfunction in β-thalassemia major. Fifty Egyptian β-thalassemia major patients were subjected to echocardiography to assess LV function. Apo E genotyping by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was done for all patients in addition to 50 age and sex matched healthy control subjects. Patients were classified into three groups. Group I and II were clinically asymptomatic. Group II subjects had evidence of LV dilatation, while Group III patients had clinical and echocardiographic findings of LV failure. Apo E4 allele was significantly higher among Group II and III than in controls. In conclusion, Apo E4 allele can be considered as a genetic risk factor for LV dysfunctions in β-thalassemic patients. It could be used as predictive indicator for additional risk of LV failure, particularly in asymptomatic patients with LV dilatation, requiring a closer follow-up, to prevent further disease progression.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt.
authors.forename: Mona H
authors.initials: MH
authors.lastname: El-Tagui
authors.forename: Mona M
authors.initials: MM
authors.lastname: Hamdy
authors.forename: Iman A
authors.initials: IA
authors.lastname: Shaheen
authors.forename: Hala
authors.initials: H
authors.lastname: Agha
authors.forename: Hoda A
authors.initials: HA
authors.lastname: Abd-Elfatah
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D053327:Apolipoprotein E4 / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D004452:Echocardiography; D004534:Egypt / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012307:Risk Factors; D018487:Ventricular Dysfunction, Left / Q000453:epidemiology / Q000235:genetics*; D055815:Young Adult; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D053327:Apolipoprotein E4