Von Willebrand Disease: a Genetic Disorder

Von Willebrand Disease: A Genetic Disorder Von Willebrand's disease is a inherited disorder with prolonged bleeding time due to a clotting factor insufficiency and decreased platelet function. It is the most common hereditary coagulation disorder (Obesity, Fitness & Wellness Week 1). This disease The Finnish physician Erik von Willebrand was the first to describe von Willebrand disease. In 1926, this doctor observed that several male and female members of a large family from the Aland Islands had enlarged bruising and extended incidents of bleeding. The seriousness of the bleeding varied between family members and ranged from mild to severe. What differentiated this bleeding disorder from classical hemophilia was that it did not appear to be linked with muscle and joint bleeding, and it affected both women and men. Dr. von Willebrand named this disorder hereditary pseudohemophilia (Andres 1554).
Pseudohemophilia, commonly known as von Willebrand disease, is caused when the body does not produce enough of a protein called von Willebrand factor or produces abnormal von Willebrand Factor. The von Willebrand Factor is involved in the process of blood clotting, called coagulation. Blood clotting is essential to mend an injury to a blood vessel. The von Willebrand Factor permits blood cells called platelets to attach to the damaged area and develop a provisional plug to close the hole and stop the bleeding when a blood vessel is incapacitated. The von Willebrand Factor is produced by platelets and by the cells that cover the inner wall of the blood vessels, called endothelial cells. (Andres 1554).
The genetics of von Willebrand disease are multifaceted and concern a gene that secretes the von Willebrand Factor (Andres 1556). This gene is located at the tip of the short arm on chromosome 12 (Yuan 1). Since a person receives two of each type of chromosome, they inherit two von Willebrand Factor genes. Different types of changes in the von Willebrand Factor gene