Diagnosing von Willebrand disease: genetic analysis

Molecular genetic analysis of porcine von Willebrand disease: tight linkage to the von Willebrand factor locus.

von Willebrand disease (vWD), one of the most common bleeding disorders in humans, is manifested as a quantitative or qualitative defect in von Willebrand factor (vWF), an adhesive glycoprotein (GP) with critical hemostatic functions. Except for the rare severely affected patient with a gene deletion as etiology of the disease, the molecular basis for vWD is not known. We studied the molecular ...

The genetic basis of von Willebrand disease.

The common autosomally inherited mucocutaneous bleeding disorder, von Willebrand disease (VWD) results from quantitative or qualitative defects in plasma von Willebrand factor (VWF). Mutation can affect VWF quantity or its functions mediating platelet adhesion and aggregation at sites of vascular damage and carrying pro-coagulant factor VIII (FVIII). Phenotype and genotype analysis in patients ...

Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients

von Willebrand disease (VWD) is often caused by genetic defects in the vonWillebrand factor (VWF) gene and is divided into three major subtypes: type 3 (VWD3) is characterized by total absenceofVWF, type2 (VWD2)by functionaldisturbance of VWF, and type 1 (VWD1) by low plasma concentration of functionally normal VWF.1 Diagnosis of VWD is challenging due to theheterogeneity of the disease and can...

Defining von Willebrand disease.

for repeat testing. The authors’ conclusion that it should be considered for screening patients requires further consideration and study but conceivably, this assay should improve the future of VWD diagnosis. Conflict-of-interest disclosure: P.D.J. has received research funding from Bayer, CSL Behring, and Octapharma; and honoraria for educational talks from Baxalta, CSL Behring, and Octapharma. n

Genetic Analysis of 31 Swedish Type 1 von Willebrand Disease Families Reveals Incomplete Linkage to the von Willebrand Factor Gene and a High Frequency of a Certain Disease Haplotype Running Head: Genetic Analysis of von Willebrand Disease