1.
Br J Haematol
; 133(6): 664-6, 2006 Jun.
Article
in English
| MEDLINE
| ID: mdl-16704444
ABSTRACT
Pseudo-von Willebrand disease (p-VWD) and type 2B von Willebrand disease (VWD) have similar phenotypic parameters and clinical symptoms, but different aetiologies. Fourteen individuals from five families with a historical diagnosis of type 2B VWD but with no mutation in the von Willebrand factor gene were re-investigated for the possibility of p-VWD, using platelet aggregation in the presence of cryoprecipitate. p-VWD was confirmed by targeted DNA sequencing of the glycoprotein Ibalpha gene, identifying a heterozygous Glycine 233 Valine substitution. This study suggests that p-VWD may be under diagnosed, and that platelet aggregation in the presence of cryoprecipitate is useful in differentiating this disorder from type 2B VWD.
Subject(s)
von Willebrand Diseases/diagnosis , DNA Mutational Analysis/methods , Diagnosis, Differential , Female , Genotype , Humans , Male , Mutation , Phenotype , Platelet Aggregation , Platelet Count , Platelet Glycoprotein GPIb-IX Complex/genetics , von Willebrand Diseases/blood , von Willebrand Diseases/genetics
2.
Methods Mol Biol
; 187: 29-35, 2002.
Article
in English
| MEDLINE
| ID: mdl-12013748