Hemophilia

Genetic disorder project

About Hemophilia

Hemophilia is a rare inherited bleeding disorder in which the blood doesn't clot properly. Hemophilia a single gene mutation disorder. It's a sex-linked trait, 1 in 5,000 male births are affected with Hemophilia, this disorder can only affect males, Hemophilia is located on the X chromosome and lastly women can't feel the effects of this disorder they are carriers for Hemophilia.

Symptoms

  • Bleeding into the joints. This can cause swelling and pain or tightness in the joints.
  • Bleeding into the skin (bruising) or muscle and soft tissue causing a build-up of blood in the area.
  • Bleeding of the mouth and gums , and bleeding that is harder to stop after losing a tooth.
  • Bleeding after having shots, such as vaccination.
  • Bleeding in the head of an infant after a difficult delivery .
  • Blood in the urine or stool.
  • Frequent and hard to stop nose bleeds.

Treatment

Hemophilia can not be cured. With proper treatment though, the person who is affected should live about only 10 years less than the normal person, but if not treated they could die before adulthood. The best way to treat this disorder is to replace the missing blood clit factor so that the blood can clot properly. People with hemophilia can learn how to perform this on themselves so that they can stop bleeding episodes and, by performing the infusions on a regular basis, can even prevent most bleeding episodes.

History

In 1948 the National Hemophilia Foundation opens as The Hemophilia Foundation, Inc. The reason some people call this "the royal disease" is because it affected the royal families in England. In 1926 Finnish physician Erik von Willebrand published a paper describing what he called pseudohemophilia, a bleeding disorder affecting men and women equally, but Hemophilia was first discovered by Dr. Judith Pool in 1964. Dr. Alfredo Pavlovsky discovered that Hemophilia had two different types A and B.

Types

There are two main types of hemophilia, Hemophilia A due to factor VIII deficiency and Hemophilia B due to factor IX deficiency. They are almost the same thing and both have, bleeding into joints and muscles and internal or external bleeding after injury or surgery.

Support Groups

There are many support groups for Hemophilia. Some of them include: Canadian Hemophilia Society (http://www.hemophilia.ca/en/), National Hemophilia Foundation (https://www.hemophilia.org/) , World Federation of hemophilia (https://www.wfh.org/en/page.aspx?pid=492)