richard paul period 7 11 15 2011 n.
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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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richard paul period 7 11 15 2011
Richard Paul

Period 7

11/15/2011

Hemophilia

symptoms
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.
genetics of hemophilia
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.

hemophilia a hemophilia b
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.
history of the disease
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.
famous people with hemophilia
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.
lifestyle of hemophiliacs
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.
treatment
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.

works cited
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