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.
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).
Kurnik
Karin
K
Dept. of Pediatrics, University Hospital Munich, Germany.
Kreuz
Wolfhart
W
Horneff
Sylvia
S
Düring
Christine
C
Schobess
Rosemarie
R
Bidlingmaier
Christoph
C
Ettingshausen
Carmen Escuriola
CE
Krümpel
Anne
A
Bogdanova
Nadia
N
Nowak-Göttl
Ulrike
U
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
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin