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Hemophilia

Richard Paul Period 7 11/15/2011. Hemophilia. Symptoms. Hemophilia is characterized by the inability to clot. In mild cases, abnormal bleeding can occur after trauma or surgery.

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Hemophilia

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  1. Richard Paul Period 7 11/15/2011 Hemophilia

  2. Symptoms • Hemophilia is characterized by the inability to clot. • In mild cases, abnormal bleeding can occur after trauma or surgery. • In more serious cases, bleeding can occur into the joints, muscles and brain. Also heavy bleeding can occur after minor trauma or spontaneously.

  3. Genetics of Hemophilia • The genes that can be responsible for Hemophilia A and B are genes F8 and F9 which are located on the X-chromosome. • Hemophilia is X-linked recessive and therefore a sex-linked disease.

  4. Hemophilia A Hemophilia B • “The most common mutation in people with severe hemophilia A is a rearrangement of genetic material called an inversion.”(NIH) • These mutations either lead to the production of an abnormal coagulation factor 8 or reduce the amount of it. • “The most common mutations change single DNA building blocks (base pairs) in the gene.”(NIH) • Reduces the amount of coagulation factor 9. • There is also a rare case called Hemophilia B Leyden. People with this disease gradually have an increase in coagulation factor nine during puberty, and are nearly normal in adulthood.

  5. History of the Disease • The early nineteen hundreds were the first time blood could be transfused into hemophiliacs (usually by family members on site). • In the 1980s factor concentrates infect 80% of the people with hemophilia in the U.S with HIV. • In 1992 the first clotting factor was genetically engineered. • Jews recognized hemophilia first, they enacted a law that if a women had two sons that died from circumcision her third son would not be required to be circumcised.

  6. Famous People with Hemophilia • Famous people who were affected include the royal family after Queen Victoria, Alexei, the son of czar Nicholas of Russia, and Abraham Lincoln.

  7. Lifestyle of Hemophiliacs • The obvious difference in hemophiliacs lives is that they have to be more cautious about getting injured. • They also must exercise regularly, “Activities such as swimming, bicycle riding and walking can build up muscles while protecting joints”(mayo). • Medicines that aggravate bleeding (ibuprofen) and blood thinners (warfarin) have to be avoided.

  8. Treatment • Mild hemophilia A.“Treatment may involve slow injection of the hormone desmopressin (DDAVP) into a vein to stimulate a release of more clotting factor to stop bleeding”(mayo). There is also a nasal version. • For severe Hemophilia A and Hemophilia B, patients need to have transfusions of the clotting factor they are missing, which can be pulled from human blood or genetically engineered (recombinant clotting factors). • While hemophilia cannot be prevented, regular infusions of clotting factors can reduce risk.

  9. Works Cited • http://ghr.nlm.nih.gov/condition/hemophilia • http://www.mayoclinic.com/health/hemophilia • http://www.kogenatefs.com/webapp/newsletter/2008-Issue-4-Number-2.html • http://www.hemophilia-information.com/history-of-hemophilia.html

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