Evaluation of von Willebrand factor phenotypes and genotypes in Hemophilia A patients with and without identified F8 mutations

Journal of Thrombosis and Haemostasis : JTH
B BoylanHemophilia Inhibitor Research Study Investigators

Abstract

Hemophilia A (HA) is an X-linked bleeding disorder caused by a deficiency in factor VIII (FVIII). von Willebrand disease (VWD) is characterized by a quantitative or qualitative defect in von Willebrand factor (VWF). Patients with VWD with severely low VWF or VWD Type 2N (VWD2N), a VWD subtype distinguished by defective VWF binding to FVIII, may have reduced FVIII levels secondary to their VWD. These patients superficially resemble patients with HA and pose a potential for misdiagnosis. To investigate the unexplained cause of bleeding in HA patients without known FVIII mutations by assessing plasma VWF antigen (VWF:Ag), FVIII binding capacities and VWF genotypes. Thirty-seven of 1027 patients with HA studied as part of the Hemophilia Inhibitor Research Study lacked identifiable F8 mutations. These patients (cases) and 73 patients with identified F8 mutations (controls) were evaluated for VWF:Ag, a patient's VWF capacity to bind FVIII (VWF:FVIIIB) and VWF sequence. Four cases had VWF:Ag < 3 IU dL(-1) and VWF mutations consistent with Type 3 VWD. Six cases and one control were heterozygous for mutations previously reported to cause Type 1 VWD (VWD1) (n = five cases and one control) or predicted to be deleterious by Polyphen2 and S...Continue Reading

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Citations

Jul 24, 2018·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Matthew S Evans, M Elaine Eyster
Aug 21, 2020·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Omid Seidi ZadehSanaz Homayoun
Feb 18, 2016·Haemophilia : the Official Journal of the World Federation of Hemophilia·J M BastidaJ R González-Porras
Mar 30, 2021·Haemophilia : the Official Journal of the World Federation of Hemophilia·John Michael SouciePeter A Kouides

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