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Hemophilia
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  1. Hemophilia By: Lauren Donnangelo

  2. Symptoms • Excessive bleeding after surgery, trauma, or injury • Sudden or unexplained bleeding • Bruised and swollen muscles or joints • Deformed joints • Bloody urine or stool • Severe bruising • Frequent nosebleeds • Difficulty breathing due to bleeding in the throat • Extensive pain • Dizziness, fatigue, or headaches due to bleeding of the brain sheenasgenetics.tripod.com

  3. Genetic Cause • Hemophilia is a recessive sex-linked disorder. • The mutated gene that accounts for hemophilia is located on the X chromosome. • A mutation in the F8 gene causes Hemophilia A, and a mutation in the F9 gene causes Hemophilia B. • These mutations result in an absence of several proteins required for blood clotting. singularityhub.com

  4. Treatment • There is no cure for hemophilia and no way to prevent it. However, patients can receive injections of donated, synthetic, or recombinant forms of plasma. • Human Factor VII concentrate: plasma-derived Factor VII is made from donor plasma • Recombinant Factor VIII concentrate: recombinant plasma containing albumin • Porcine Factor VIII concentrate • Prothrombin Complex Concentrate: contains prothrombin, Factor X and Factor IX • Coagulation Factor IX concentrate treats Hemophilia B • Cryoprecipitate: contains Factor VIII and fibrinogen • Synthetic plasma, DDAVP • High amounts of estrogen or progesterone www.pathguy.com

  5. Tests and Screenings • Blood tests can be used analyze the amount of coagulation factors present (or absent) in the blood, as well as clotting rate. • Chronic Villus Sampling (CVS) or Amniocentesis can determine pre-natal hemophilia. • Physical examination • Family history/pedigree analysis www.sillyjokes.co.uk

  6. Percentage of Population • One in every 10,000 males (approximately 0.01%) has Hemophilia A, and it is extremely rare for a woman to have Hemophilia A. • One in every 60,000 males (approximately 0.002%) has Hemophilia B, and it is extremely rare for a woman to have Hemophilia B. • Hemophilia occurs in all world populations, regardless of race/ethnicity or environment/region. www.humanillnesses.com

  7. Societal Issues • Hemophilia is culturally accepted in most societies, and there are many support groups, fundraisers, and educational programs for hemophiliacs and their families. • In the United States, there are organizations such as the National Hemophilia Foundation and the Hemophilia Federation of America. • There is also a World Federation of Hemophilia. www.hemophiliavillage.com

  8. Bibliography • Shah, Ira. “Hemophilia.” Pediatric Oncall. 22 Feb. 2009. <http://www.pediatriconcall.com/fordoctor/diseasesandcondition/hemophilia.asp#> • “Hemophilia.” Genetics Home Reference. 22 Feb. 2009. <http://ghr.nlm.nih.gov/condition=hemophilia> • “Understanding Hemophilia- the Basics.” WebMD. 22 Feb. 2009. <http://www.webmd.com/a-to-z-guides/understanding-hemophilia-basics> • “What Is Hemophilia, Hemophilia FAQ’s.” Hemophilia Village. 22 Feb. 2009. <http://www.hemophiliavillage.com/about_hemophilia.html> • “Learn About Hemophilia.” Salsa Challenge. 22 Feb. 2009. <http://www.salsachallenge.com/about-hemophilia/hemophilia.aspx>