title: Congenital thrombotic risk factors in beta-thalassemia.
abstract: Thalassemia major patients have increased risk for thromboembolic complications because of the chronic hypercoagulable state. The question arising from this is whether thromboembolic complications are the result of genetic polymorphisms of prothrombotic factors. Here, we studied factor V 1691 G-A (FVL), factor II polymorphism (G20210A), methyltetrahydrofolate reductase mutation (MTHFR, C677T), and endothelial cell protein C receptor (EPCR) deletion polymorphism and their relationship with thromboembolic complications. We found significant decrements of protein C and protein S and a slight increased prevalence of congenital thrombophilic mutations when compared with controls. Although 5 of the patients had high soluble EPCR (sEPCR) levels, no significant change was found in sEPCR values between patients and controls.
authors.affiliation: Department of Pediatric Hematology, Süleyman Demirel University Faculty of Medicine, Isparta, Turkey. tansusipahi@hotmail.com
authors.forename: Tansu
authors.initials: T
authors.lastname: Sipahi
authors.forename: Aslihan
authors.initials: A
authors.lastname: Kara
authors.forename: Ayca
authors.initials: A
authors.lastname: Kuybulu
authors.forename: Yonca
authors.initials: Y
authors.lastname: Egin
authors.forename: Nejat
authors.initials: N
authors.lastname: Akar
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D011110:Polymorphism, Genetic; D011486:Protein C / Q000235:genetics; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D013923:Thromboembolism / Q000097:blood / Q000209:etiology / Q000235:genetics; D055815:Young Adult; D017086:beta-Thalassemia / Q000097:blood / Q000150:complications* / Q000235:genetics*
chemical_list: D011486:Protein C; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)