The Importance and Complications of Sequencing of Von Willebrand Gene in Von Willebrand Disease

Abstract

Genetic testing in patients with von Willebrand disease completes phenotypic testing with an aim to confirm the von Willebrand factor defect at a molecular level. Structure of the VWF gene was described 30 years ago; since then a large number of mutations leading to VWD have been described in this gene. Thanks to describing these mechanisms it is possible to understand the pathogenesis of the most common congenital bleeding disorder.

Keywords

• von willebrand disease
• von willebrand factor
• genetic testing
• new generation sequencing
• mutation