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Von Willebrand Disease Research Paper

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Genetics and Genomics: Assignment 3
Tasha Blue
Jacksonville State University
NU 352: Health Assessment Across the Lifespan
September 2016

Learning about von Williebrand Disease According to the National Hemophilia Foundation (n.d.), von Willebrand disease (VWD) is a genetic disorder caused by missing or defective von Willebrand factor (VWF), a clotting protein. VWF binds factor VIII, a key clotting protein, and platelets in blood vessel walls, which help form a platelet plug during the clotting process. The condition is named after Finnish physician Erik von Willebrand, who first described it in the 1920s (National Hemophilia Foundation, n.d.). The seriousness of the bleeding varied between family …show more content…

When von Willebrand factor is insufficient or not operational appropriately because of structural defects, small blood cells called platelets cannot stick together properly, nor can they attach themselves normally to the blood vessel walls when an injury has occurred. The result is interfering with the clotting course, and uncontrolled bleeding may continue. VWD is the most common bleeding disorder, affecting up to 1% of the United States population. It is carried on chromosome 12 and occurs equally in men and women (National Heart, Lung, and Blood Institute, …show more content…

A parent can pass the abnormal gene for the disease to his or her child. Most circumstances are "autosomal dominant inherited" disorders, which means a person only need an abnormal gene from one parent to be affected. If a person have the genetic factor for von Willebrand disease, an individual have a 50 percent chance of spreading this gene to their children. The harshest form of the ailment (type 3) is "autosomal recessive," which means both parents have to pass an abnormal gene to the young (National Hemophilia Foundation, n.d.). Signs and Symptoms According to the National Hemophilia Foundation (.n d.), people with VWD experience recurrent nosebleeds, easy bruising and extreme bleeding for the duration of and after invasive procedures, such as tooth removals and surgery. Women often experience menorrhagia, heavy menstrual periods that last lengthier than usual, and hemorrhaging after giving birth. The signs and symptoms depends on the severity of the disease. There are three main types of VWD. Type 1, type 2, type 3, and acquired. According to the National Hemophilia Foundation (.n d.), type 1 VWD is found in 60%-80% of patients. People with type 1 VWD have low levels of von Willebrand factor and may have low levels of factor VIII. Levels of VWF in the blood range from 20%-50% of normal. The symptoms are usually mild (National

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