title: Effects of the factor V G1691A mutation and the factor II G20210A variant on the clinical expression of severe hemophilia A in children--results of a multicenter studys.
abstract: The present multicenter cohort study of 107 pediatric PUPs was performed to determine whether the concomitant inheritance of the factor (F) V G1691A or the F II G20210A mutation influences the clinical expression of severe hemophilia A (HA). Carriers of the FV and FII mutations had a significantly lower annual bleeding frequency (ABF) than non-carriers (p=0.012). Joint damage (Pettersson score) was significantly less severe in patients with thrombophilia (p=0.022). A protective effect of thrombophilic risk factors was shown for ABF (OR [CIs]: 0.7[0.5-0.9]; p=0.02) and the severity of the hemophilic arthropathy (OR [CIs]: 0.06[0.01-0.3]; p=0.0009).
authors.affiliation: Dept. of Pediatrics, University Hospital Munich, Germany.
authors.forename: Karin
authors.initials: K
authors.lastname: Kurnik
authors.forename: Wolfhart
authors.initials: W
authors.lastname: Kreuz
authors.forename: Sylvia
authors.initials: S
authors.lastname: Horneff
authors.forename: Christine
authors.initials: C
authors.lastname: Düring
authors.forename: Rosemarie
authors.initials: R
authors.lastname: Schobess
authors.forename: Christoph
authors.initials: C
authors.lastname: Bidlingmaier
authors.forename: Carmen Escuriola
authors.initials: CE
authors.lastname: Ettingshausen
authors.forename: Anne
authors.initials: A
authors.lastname: Krümpel
authors.forename: Nadia
authors.initials: N
authors.lastname: Bogdanova
authors.forename: Ulrike
authors.initials: U
authors.lastname: Nowak-Göttl
mesh_terms: D002648:Child; D005165:Factor V / Q000235:genetics*; D006467:Hemophilia A / Q000150:complications / Q000235:genetics*; D006470:Hemorrhage; D006801:Humans; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics*; D012189:Retrospective Studies; D019851:Thrombophilia
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin