title: The prevalence of factor V Leiden (G1691A), prothrombin G20210A and methylenetetrahydrofolate reductase C677T mutations in Jordanian patients with beta-thalassemia major.
abstract: One hundred beta-thalassemia major (beta-TM) patients and 100 individuals as control were included. Factor V Leiden and prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) gene mutations were genotyped by PCR and allele-specific restriction enzyme techniques. The prevalence of factor V Leiden G1691A, MTHFR C677T and prothrombin G20210A in patients was insignificantly higher than controls. Patients with beta-TM have insignificantly higher frequencies of mutant A allele in factor V Leiden G1691A (11.5 vs. 10.5%), mutant T allele in MTHFR C677T (21.5 vs. 21%) and mutant A allele in prothrombin G20210A (3 vs. 2.5%) than controls. Double heterozygosity for two of the three mutations discussed in this study was found in (10 vs. 8%, P = 0.62) in beta-TM patients and controls. The prevalence of factor V Leiden G1691A, prothrombin G20210A and MTHFR C677T mutations was slightly but insignificantly higher in beta-TM patients than controls. beta-TM is a chronic hypercoagulable condition independent of predisposing genetic factors.
authors.affiliation: Department of Pediatrics, Jordan University of Science and Technology, Irbid, Jordan. sweedan@just.edu.jo
authors.forename: Suleimman A
authors.initials: SA
authors.lastname: Al-Sweedan
authors.forename: Said
authors.initials: S
authors.lastname: Jaradat
authors.forename: Muna
authors.initials: M
authors.lastname: Iraqi
authors.forename: Mohamed
authors.initials: M
authors.lastname: Beshtawi
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007597:Jordan / Q000453:epidemiology; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D017354:Point Mutation; D015995:Prevalence; D011516:Prothrombin / Q000235:genetics; D055815:Young Adult; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)