Gepubliceerd in:
01-02-2013
Identification of 18 High Risk F8 Mutations for Inhibitor Development in 2,700 Non-Severe Hemophilia A Patients
Auteurs:
Corien L. Eckhardt, Alice S. van Velzen, Marjolein Peters, Kathelijne Peerlinck, Johannes Oldenburg, Elena Santagostino, Jan Astermark, Waander van Heerde, Cedric Hermans, Massimo Morfini, Giancarlo Castaman, Saturnino Haya, Simon McRae, Sylvia-Elisabeth Reitter, Pieter W. Kamphuisen, Johanna G. van der Bom, Karin Fijnvandraat
Gepubliceerd in:
Tijdschrift voor Kindergeneeskunde
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bijlage 1/2013
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Extract
Neutralizing antibodies (inhibitors) towards factor VIII form a severe complication in nonsevere hemophilia A, profoundly aggravating the bleeding pattern. Identification of high risk patients is hampered by lack of information on the inhibitor risk for different mutations in the factor VIII gene (F8) that takes factor VIII exposure days into account. We aimed to assess the risk of inhibitor development in patients with non-severe hemophilia A and to analyze the association with F8 mutation, taking exposures to factor VIII concentrates into account. …