VWA9
vwa9 Gene: A Comprehensive Guide
Description
The vwa9 gene, located on chromosome 12, encodes a protein called von Willebrand factor A (VWA). VWA is an essential component of the blood clotting process, acting as a bridge between platelets and blood vessel walls.
Role in Blood Clotting
During blood clotting, VWA plays a crucial role by:
- Binding to damaged blood vessels, forming the initial platelet plug
- Interacting with platelets, promoting their aggregation and adhesion to the vessel wall
- Carrying factor VIII, another clotting factor, to the site of injury
Associated Diseases
Mutations in the vwa9 gene can lead to several bleeding disorders, including:
- von Willebrand disease (VWD): A common inherited bleeding disorder characterized by easy bruising, nosebleeds, and excessive bleeding during surgery or childbirth.
- Pseudo-von Willebrand disease (PVD): A rare bleeding disorder similar to VWD, but caused by defects in the binding of VWA to platelets.
- Thrombocytopenia-absent radius syndrome (TAR): A rare congenital disorder that involves both bleeding symptoms and the absence of one or both radii (forearm bones).
Did you Know ?
- von Willebrand disease is the most common inherited bleeding disorder, affecting approximately 1 in 100,000 people.
