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Effects of the Factor V G1691 A Mutation and the Factor II G20210A Variant on the Clinical Expression of Severe Hemophilia A (< 2%) in Children — Results of a Multicenter Study

  • Conference paper
35th Hemophilia Symposium

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Summary

It has been recently shown that the first bleeding onset in children with severe HA carrying prothrombotic risk factors is significantly later in life than in non-carriers. The present multicenter study was performed to determine whether the factor (F) V G1691A or the F II G20210A are associated with decreased annual bleeding episodes (ABE) in 104 pediatric PUP patients with severe HA consecutively admitted to German pediatric hemophilia treatment centers. Treatment was initiated according to the frequency of bleedings, and most patients received on demand therapy with a switch over to prophylactic therapy 3x/week when more than two bleedings (range 2–6) had occurred into the same joint. Prospective median (range) patient follow-up was 14 (5–24) years. Heterozygosity of the FV mutation was found in 8 subjects, homozygosity in one, and 5 children carried the FII mutation once combined with protein C-deficiency. Carriers of the FV and FII mutations had significantly fewer ABE than non-carriers (p = 0.004).65 of 104 PUP patients had developed at least one target joint. The Pettersson score (median/range: 1/0–12) available in 56 patients is clearly dependent on age (p = 0.039), and on ABE (r = 0.42; p = 0.007). The “Nuss” joint score available in 32 subjects highly correlated with the Pettersson score (r = 0.8; p = 0.0004). Data presented here give evidence that the clinical expression of severe HA in children is influenced by the co-expression of the FV and FII mutation.

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Authors
  1. K. Kurnik
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  2. C. Escuriola-Ettingshausen
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  3. S. Horneff
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  4. C. Düring
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  5. R. Schobess
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  6. C. Bidlingmaier
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  7. S. Halimeh
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  8. H. Pollmann
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  9. N. Bogdanova
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  10. U. Nowak-Göttl
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Editor information

Editors and Affiliations

  1. Hemophilia Center, Dept. of Internal Medicine, University Hospital, Theodor-Stern-Kai 7, D-60590, Frankfurt am Main, Germany

    Inge Scharrer

  2. Dept. of Hemostaseology, University Hospital, Ziemssenstr. 1a, D-80336, München, Germany

    Wolfgang Schramm

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© 2006 Springer Verlag Berlin Heidelberg

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Kurnik, K. et al. (2006). Effects of the Factor V G1691 A Mutation and the Factor II G20210A Variant on the Clinical Expression of Severe Hemophilia A (< 2%) in Children — Results of a Multicenter Study. In: Scharrer, I., Schramm, W. (eds) 35th Hemophilia Symposium. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-28546-6_16

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  • DOI: https://doi.org/10.1007/3-540-28546-6_16

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-28543-4

  • Online ISBN: 978-3-540-28546-5

  • eBook Packages: MedicineMedicine (R0)

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