| Literature DB >> 23520336 |
Veronica H Flood1, Kenneth D Friedman, Joan Cox Gill, Sandra L Haberichter, Pamela A Christopherson, Brian R Branchford, Raymond G Hoffmann, Thomas C Abshire, Amy L Dunn, Jorge A Di Paola, W Keith Hoots, Deborah L Brown, Cindy Leissinger, Jeanne M Lusher, Margaret V Ragni, Amy D Shapiro, Robert R Montgomery.
Abstract
The diagnosis of von Willebrand disease (VWD) is complicated by issues with current laboratory testing, particularly the ristocetin cofactor activity assay (VWF:RCo). We have recently reported a sequence variation in the von Willebrand factor (VWF) A1 domain, p.D1472H (D1472H), associated with a decrease in the VWF:RCo/VWF antigen (VWF:Ag) ratio but not associated with bleeding in healthy control subjects. This report expands the previous study to include subjects with symptoms leading to the diagnosis of type 1 VWD. Type 1 VWD subjects with D1472H had a significant decrease in the VWF:RCo/VWF:Ag ratio compared with those without D1472H, similar to the findings in the healthy control population. No increase in bleeding score was observed, however, for VWD subjects with D1472H compared with those without D1472H. These results suggest that the presence of the D1472H sequence variation is not associated with a significant increase in bleeding symptoms, even in type 1 VWD subjects.Entities:
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Year: 2013 PMID： 23520336 PMCID： PMC3643771 DOI： 10.1182/blood-2012-12-471672
Source DB: PubMed Journal: Blood ISSN： 0006-4971 Impact factor: 22.113