Hemophilia

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  • Topic: Coagulation, Blood, Platelet
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  • Published : December 2, 2012
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Hemophilia
Written By: Lindsay Snyder
Penn State Harrisburg
Dr. Rupali Roy
Due Date: 10/31/12

Table of Contents

Introduction……………………………………………………………………………………….1 Historical Background of Hemophilia…………………………………………………………..1-2 Techniques/Treatments over the years………………………………………………………….2-3 Blood Clotting…………………………………………………………………………………..3-4 Types of Hemophilia……………………………………….……………...................................5-7 Level of Severity………………………………………………………………………………….7 Genetics…………………………………………………………………………………………7-9 Symptoms…………………………………………………………………………………………9 Diagnosis………………………………………………………………………………………9-11 Myths about Hemophilia…………………………………………………………………………11 Current Treatments…………………………………………………………………………...11-12 A Cure………………………………………………………………………………………...12-13

Introduction
Hemophilia or Haemophilia, as it is also commonly known, is a genetic blood disorder, where the body has trouble stopping or clotting blood once an individual with hemophilia starts to bleed. A person with hemophilia is able to produce only small amounts, or in most cases unable to produce a blood protein responsible for coagulation or blood clotting. The missing blood protein is one of the 13 blood proteins needed to form a clot amongst other contributors called coagulation factor. There are various types of hemophilia and similar blood clotting disorders that revolve around the importance of all 13 proteins, platelets, and fibrin combining in order to form a clot. Of the various types of hemophilia, type A and type B being most common, approximately 1 in 5,000 males are born with type A and closer to 1 in 20,000 males are born with type B. Hemophilia is not always, but typically, a male genetic blood disorder. Females can certainly be born with hemophilia, but because it is an X-linked genetic disorder, the chances of a female being more than a carrier is unlikely. These topics, amongst others, will be covered at considerable length throughout the rest of the paper as hemophilia is uncovered. (Hemophilia, 2012) Historical Background of Hemophilia

Early history of hemophilia dates back to second century A.D. where Jewish families were not required to have a third son circumcised if two previous males had bled to death from circumcision. Early in the 19th century, hemophilia was first mentioned in a description of a bleeding disorder in 1828. ("History of bleeding," 2006) Hemophilia became known as the “Royal Disease” because Queen Victoria was a carrier and passed the carrier status on to many of her daughters. At this time, many royal families married into one another creating a long line of royal women who were carriers of the hemophilia gene and royal men that were hemophilic. (Score & Score, 2008)

(Kimball, 2011)

(Kimball, 2011)

The image above shows Queen Victoria’s family tree and how hemophilia had affected other royal families thereafter. After the turn of the century doctors and researchers began looking for the cause of hemophilia. Up until the early 1900s, it was believed that people with hemophilia simply had more fragile blood vessels. In 1925 a physician from Finland by the name of Erik von Willebrand, discovered the most common blood disorder which he named after himself, von Willebrand’s disease. This is not hemophilia but is a very closely related blood disorder that is often mentioned in the same context as hemophilia. In researching and studying those with von Willebrand’s disease, he also came across many with hemophilia and was a large contributor to understanding hemophilia, the way it is passed on to descendants, and the future treatment of the disease. ("History of bleeding," 2006) Techniques/Treatments over the years

In 1937 doctors found adding platelet free plasma called anti-hemophilic globulin could correct the clotting problem. From there through the 1950s and 1960s hemophilia patients were given whole blood or plasma transfusions to treat the disorder, until too many...
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