title: Factor V Leiden and prothrombin gene G20210A mutation in children with venous thromboembolism.
abstract: To determine whether factor V Leiden (FVL) and/or prothrombin gene G20210A mutation (PT20210A) are risk factors for venous thromboembolism (VTE) in Argentinean children. One hundred and thirty consecutive children with VTE were prospectively assisted at a single centre. Blood samples were available from 110 of them for detailed haematological analysis. The prevalence of both mutations was compared with a control group. The odds ratio for VTE was significantly increased in patients with FVL (OR 3.64; 95% CI: 1.14-11.6, p < 0.029) whereas odds ratio for VTE was not significantly increased in patients with PT20210A (OR 1.06; 95% CI: 0.24-4.73, p = 0.938). Combined disorders were found in 5 of the 10 children with the aforementioned mutations. In 21 children (19%) without these mutations other inherited and acquired disorders were detected. Our data show that FVL is a risk factor for VTE whereas PT20210A does not seem to be a risk factor in our paediatric population.
authors.affiliation: Servicio de Hematología-Oncología, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina. mbonduel@garrahan.gov.ar
authors.forename: Mariana
authors.initials: M
authors.lastname: Bonduel
authors.forename: Mirta
authors.initials: M
authors.lastname: Hepner
authors.forename: Gabriela
authors.initials: G
authors.lastname: Sciuccati
authors.forename: Graciela
authors.initials: G
authors.lastname: Pieroni
authors.forename: Aurora
authors.initials: A
authors.lastname: Feliú-Torres
authors.forename: Claudia
authors.initials: C
authors.lastname: Mardaraz
authors.forename: Juan Pablo
authors.initials: JP
authors.lastname: Frontroth
mesh_terms: D000293:Adolescent; D001118:Argentina / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007223:Infant; D008297:Male; D016017:Odds Ratio; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D013923:Thromboembolism / Q000453:epidemiology / Q000209:etiology / Q000235:genetics; D020246:Venous Thrombosis / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin