title: Estimation of the carbohydrate moiety of von Willebrand factor in the plasma of patients with subtypes 2a and 2b of von Willebrand disease.
abstract: Von Willebrand disease (vWD) results from quantitative (types 1 and 3) or qualitative (type 2) deficiency of von Willebrand factor (vWF). This glycoprotein present in plasma is involved in platelet adhesion at the site of vascular injury and serves as the carrier of antihaemophilic A factor (FVIII). Whereas recent studies have identified mutations in patients suffering from type 2 vWD, the integrity of the carbohydrate moiety of vWF in these patients is still matter of debate. In order to analyse in the plasma milieu the carbohydrate content of plasma vWF from various well-characterized type 2 vWD patients, we developed a colorimetric assay in microtiter plate based on the use of peroxidase-conjugated lectins specific for either alpha 2-6 sialic acid or beta 1-4 galactose. Removal of sialic acid from purified plasma vWF induced significant changes in the reactivity of both lectins. The analysis of various normal plasmas showed no influence of the blood groups and allowed us to compare various vWD patients. The reactivity of lectins for plasma vWFs from two type 2A and six type 2B vWD patients harbouring different mutations was not statistically different from that of a pool of normal plasmas. We conclude that the alpha 2-6 sialic acid and beta 1-4 galactose content of plasma vWF is not altered in these patients affected with types 2A and 2B vWD.
authors.affiliation: Laboratoire de Recherche sur l'Hémostase, LFB, Centre Régional de Transfusion Sanguine, Lille, France.
authors.forename: C
authors.initials: C
authors.lastname: de Romeuf
authors.forename: B
authors.initials: B
authors.lastname: Samor
authors.forename: C
authors.initials: C
authors.lastname: Mazurier
mesh_terms: D002241:Carbohydrates / Q000032:analysis*; D003124:Colorimetry / Q000379:methods; D006801:Humans; D017354:Point Mutation; D014842:von Willebrand Diseases / Q000097:blood* / Q000235:genetics; D014841:von Willebrand Factor / Q000032:analysis* / Q000737:chemistry / Q000235:genetics
chemical_list: D002241:Carbohydrates; D014841:von Willebrand Factor