Large experience with a factor VIII binding assay of plasma von Willebrand factor using commercial reagents.
The present diagnostic assay for type 2N von Willebrand disease (VWD) is based on the in vitro measurement of the capacity of plasma von Willebrand factor (VWF) to bind exogeneous factor VIII (VWF:FVIIIB). We report a method using only commercially available reagents that is easy to perform. This method has been validated in a cohort of 144 patients with FVIII/VWF ratios < 0.6 using a plasma control mixture representative of intermediate VWF:FVIIIB. In total, 15 patients were diagnosed with markedly decreased VWF:FVIIIB and five patients were shown to have moderately decreased VWF:FVIIIB. Specific type 2N mutations were identified in all these patients.
Caron
Claudine
C
Department of Haematology, University Cardiological Hospital, Boulevard du Professeur J. Leclerq, 59037 Lille Cedex, France. c.caron@chru-lille.fr
Mazurier
Claudine
C
Goudemand
Jenny
J
D015331:Cohort Studies; D004797:Enzyme-Linked Immunosorbent Assay / Q000379:methods; D005169:Factor VIII / Q000378:metabolism*; D006801:Humans; D007202:Indicators and Reagents; D010641:Phenotype; D011485:Protein Binding; D015203:Reproducibility of Results; D014842:von Willebrand Diseases / Q000175:diagnosis*; D014841:von Willebrand Factor / Q000378:metabolism*
D007202:Indicators and Reagents; D014841:von Willebrand Factor; D005169:Factor VIII