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No increase in bleeding identified in type 1 VWD subjects with D1472H sequence variation.
- Source :
-
Blood [Blood] 2013 May 02; Vol. 121 (18), pp. 3742-4. Date of Electronic Publication: 2013 Mar 21. - Publication Year :
- 2013
-
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.
- Subjects :
- Amino Acid Substitution genetics
Aspartic Acid genetics
Case-Control Studies
Hemorrhage diagnosis
Hemorrhage etiology
Histidine genetics
Humans
Incidence
Mutation, Missense
Research Design
Severity of Illness Index
von Willebrand Disease, Type 1 complications
von Willebrand Disease, Type 1 diagnosis
Hemorrhage epidemiology
Hemorrhage genetics
von Willebrand Disease, Type 1 epidemiology
von Willebrand Disease, Type 1 genetics
von Willebrand Factor genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1528-0020
- Volume :
- 121
- Issue :
- 18
- Database :
- MEDLINE
- Journal :
- Blood
- Publication Type :
- Academic Journal
- Accession number :
- 23520336
- Full Text :
- https://doi.org/10.1182/blood-2012-12-471672