Variant von Willebrand disease designated as type I New York or type Malmo is characterized by enhanced ristocetin-induced platelet agglutination with normal von Willebrand factor multimeric distribution in plasma. We have studied four such patients belonging to three unrelated families and found in all of them a unique cytosine-to-thymine transition changing the codon for Pro" (CCG) to Leu (CI...

hereditary elliptocytosis and hereditary pyropoikilocytosis. Blood Cells Mol Dis 1996;22:254–8. 8 Delaunay J. The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations. Semin Hematol 2004;41:165–72. 9 Carella M, Stewart G, Ajetunmobi JF et al. Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus ...

There are three major types of VWD disease. Type 1, the most frequent form, is characterized by a partial quantitative deficiency in von Willebrand factor (VWF). Type 2 is a qualitative deficiency, and Type 3 is a virtually complete deficiency. Type 2 VWD is divided into four subtypes. Type 2A includes variants with decreased platelet adhesion caused by a selective deficiency in high-molecular ...

BACKGROUND von Willebrand disease type 3, is an extremely rare condition. It can be severe and potentially life-threatening, particularly in pregnant women during labor and subsequently during early puerperium. Due to its rarity, there is no optimal treatment/management during pregnancy. CASE We describe two cases of pregnant women with von Willebrand disease type 3, and its successful survei...

Vessels from normal pigs and pigs with severe von Willebrand disease were exposed for up to 30 minutes to both nonanticoagulated and heparinized blood from normal pigs in an ex vivo perfusion system. Shear rates at the vessel surface were varied over a broad physiological range, gamma w = 212 to 3380 sec-1. The deposition of 111In-labeled platelets was determined by radiometric counting. For al...

Type I von Willebrand disease (vWD) is characterized by equally low plasma concentrations of von Willebrand factor antigen (vWF:Ag) and ristocetin cofactor (RiCof) and by the presence of all vWF multimers in sodium dodecyl sulfate (SDS)-agarose gel electrophoresis. For 17 patients (13 kindreds) diagnosed with these criteria, we have studied the platelet contents of vWF:Ag and RiCof and the chan...

A previously healthy elderly man with mucocutaneous bleeding was found to have a benign monoclonal IgG gammapathy associated with criteria for severe von Willebrand disease (Factor VIII procoagulant activity, Factor-VIII-related antigen, and ristocetin cofactor activity, less than 10% of normal). Associated qualitative abnormalities of factor VIII/von Willebrand factor were demonstrated by radi...

Pseudo (platelet-type)-von Willebrand disease is an autosomal dominant bleeding disorder caused by the hyperfunction of a receptor on the platelet surface. The abnormal receptor, glycoprotein Ib, displays increased affinity for its ligand, von Willebrand factor. Four members (normal mother/affected father/two affected daughters) of a family with pseudo-von Willebrand disease were studied to det...

Von Willebrand disease (vWD) is the most common inherited bleeding disorder. It is due to deficiency of von Willebrand factor (vWF) which may be either quantitative or qualitative. There are 3 types of vWD out of which Type III is the rarest but the most severe. We report a 27 years second gravida diagnosed with vWD in her index pregnancy. Though her antenatal period was uneventful, she develop...

We report a case of a 60 year-old woman with von Willebrand disease type I that was submitted to a mitral valve repair. The patient needed special care due coagulopathy and needed VIII factor (VIIIf) and von Willebrand factor (vWf), before, during and after surgery. There was no complication during or after surgery. Patient is asymptomatic nine months postoperatively. The correction of VIIIf an...