Variation in baseline factor VIII concentration in a retrospective cohort of mild/moderate hemophilia A patients carrying identical m>F8m> mutations

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• 作者：J. I. Loomans ; A. S. van Velzen ; C. L. Eckhardt ; M. Peters ; A. M&auml ; kipernaa ; M. Holmstrom ; P. P. Brons ; N. Dors ; S. Haya ; J. Voorberg ; J. G. van der Bom and K. Fijnvandraat
• 刊名：Journal of Thrombosis and Haemostasis
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：15
• 期：2
• 页码：246-254
• 全文大小：439K
• ISSN：1538-7836

文摘

The bleeding phenotype in patients with mild/moderate hemophilia A (MHA) is inversely associated with the residual plasma concentration of factor VIII (FVIII:C). Within a group of patients with the same m>F8m> missense mutation, baseline FVIII:C may vary, because, in healthy individuals, von Willebrand factor (VWF) levels, ABO blood group and age are also known to influence baseline FVIII:C. Our understanding of the pathophysiologic process of the causative genetic event leading to reduced baseline FVIII:C in MHA patients is still limited.