1 / 9

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.

adelle
Télécharger la présentation

Hemophilia

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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

More Related