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Haematologica, Vol 92, Issue 7, 982-985 doi:10.3324/haematol.11161
Copyright © 2007 by Ferrata Storti Foundation
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Disorders of Hemostasis

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 study

Karin Kurnik, Wolfhart Kreuz, Sylvia Horneff, Christine Düring, Rosemarie Schobess, Christoph Bidlingmaier, Carmen Escuriola Ettingshausen, Anne Krümpel, Nadia Bogdanova, Ulrike Nowak-Göttl

From the Dept. of Pediatrics, University Hospital Munich, Germany (KK, CB); Dept. of Pediatric Hematology and Oncology, University Hospital Frankfurt, Germany (WK, CEE); Dept. of Pediatrics, University Hospital Halle/Saale, Germany (SH, RS); Dept. of Pediatric Hematology and Oncology, University Hospital Münster, Germany (CD, AK, UN-G); Institute of Medical Genetics, University of Münster, Germany (NB)

Correspondence: Ulrike Nowak-Göttl, Dept. of Pediatric Hematology/Oncology, University Children’s Hospital of Münster Albert-Schweitzer-Str. 33, 48149 Münster, Germany. E-mail: leagottl{at}uni-muenster.de

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).

Key words: severe hemophilia A, pediatric PUPs, thrombophilia, Pettersson score, synovitis.






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