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Understanding Hemophilia: Causes, Symptoms, and Treatments

Hemophilia is a genetic disorder characterized by the blood's inability to clot due to a deficiency in clotting factors, primarily Factor 8 and Factor 9. An inherited condition, it affects about 1 in 4,000 males, with rare cases in females. Symptoms include prolonged bleeding, easy bruising, joint swelling, and more. Diagnosis typically involves blood tests to assess clotting factor activity. Treatment has advanced significantly, often involving injections to replace missing factors. Future innovations in gene therapy and genetic engineering hold promise for improved management.

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Understanding Hemophilia: Causes, Symptoms, and Treatments

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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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