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Megan Godfrey

Hemophilia. Megan Godfrey. Definition. “Hemophilia is a genetic disorder characterized by the blood’s inability to form clots as a result of a lack or alteration of certain clotting factors.”. http://www.hemophilia.on.ca/images/homeimages/index_r5_c6.gif. Causes. Inherited disorder

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Megan Godfrey

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  1. Hemophilia Megan Godfrey

  2. Definition “Hemophilia is a genetic disorder characterized by the blood’s inability to form clots as a result of a lack or alteration of certain clotting factors.” http://www.hemophilia.on.ca/images/homeimages/index_r5_c6.gif

  3. Causes Inherited disorder Caused by defect in the genes that determine how body produces blood clotting factors 8 and 9 1 in 4,000 males have it Female can have it but very rare Possible for it to develop later in life

  4. Clotting Process • Begins after the wall of a blood vessel has broken • Vessel constricts to reduce blood flow • Platelets all group together at the damaged site • Platelets stop the bleeding, but can become easily dislodged

  5. As platelets arrive, molecules released from damaged vessel activate clotting Factor 12 • It then activates another clotting Factor and so on and so on until the last molecule thrombin is activated • This thrombin cuts small pieces of another protein (fibrinogen) • When lots of these are cut, they cover the platelets and stabilize the clot http://www.mybloodyourblood.org/images/hs_images/platelets%203.gif

  6. Hemophilia A • Mild/Moderate hemophilia- Factor 8 present, slightly dysfunctional shape • Severe hemophilia- Factor 8 is usually missing • 90% have Hemophilia A

  7. Hemophilia B • Mild/Moderate hemophilia- small mutation in gene leads to dysfunctional Factor 9 • Severe- more critical mutation in gene misshapes Factor 9 protein • 9% have Hemophilia B

  8. History • Recognized in ancient times • 1803- Philadelphia physician, Dr. John Conrad Otto wrote “a hemorrhagic disposition existing in certain families” • Word “hemophilia” first appeared in 1828 • Before effective treatments, people with severe hemophilia died around the age of 11

  9. Symptoms • Bleeding for long periods of time • Easily bruised • Swelling in joints • Nosebleeds • Blood in urine • Blood in stools • Pain in joints http://www.pathguy.com/lectures/hemophilia.jpg http://www.ispub.com/xml/journals/ijhe/vol1n2/hemophilia-fig1.jpg

  10. Diagnosis • Doctor will perform several blood tests to rule out other disorders • Final blood test: Factor activity test, confirms Hemophilia, which type, and severity • Test determines how well each factor performs • Once person in family diagnosed, might pinpoint mutation so other family members will know if they carry mutation http://www.lef.org/magazine/mag2003/images/nov2003_report_blood_01.jpg

  11. Treatment • Easy now a days • Replacing missing clotting activity of factor 8 or 9 by injection • Hemophilia A: done by product made from blood plasma from human donors or pigs or by using factor 8 preparation made by bioengineering • Hemophilia B: factor 9 concentrate made from human plasma http://www.humanillnesses.com/original/images/hdc_0001_0002_0_img0130.jpg

  12. Future Outlook • Genetic engineering offers potential to create clotting factors with better properties • Reduced immunogenicity and prolonged life • Transgenic animals potential source of therapeutic materials • Many trials of gene therapy underway http://biomed.brown.edu/Courses/BI108/BI108_2003_Groups/Coronary_Angiogenesis/DNAPIC.JPG http://www.wellesley.edu/Biology/Courses/219/Gen_news/i3_Gene_Therapy.jpg

  13. References Cold Spring Harbor (2002). Hemophilia. www.ygyh.org/hemo/whatisit.htm (Sept. 20, 2006). Jones, Peter. (1995) Living with Hemophilia. New York: Oxford University Press Inc. Pacheco, Maria. (2002) Hemophilia. In Magill’s Medical Guide (Vol. 2. pp. 1077). Pasadena, California: Salem Press. U.S. Department of Health and Human Services. (March 2006) www.nhlbi.nih.gov/health/dci/Diseases/Hemophilia_what.html (Sept. 25,2006) World Federation of Hemophilia. (July 2005). FAQ Hemophilia. www.wfh.org/index.asp?lang=EN8url=2/1/1_1_1_FAQ.htm (Sept. 21, 2006)

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