Transcript Hemophilia
Hemophilia By Trevor Nelson and Andy Lease Types – Clotting Factors • • • • • • • • • • • • I Fibrinogen – Easy bruising II Prothrombin – Nosebleeds and bruising III Tissue Extract IV Calcium V - Joint bleeding and other symptoms VII – Mild effects VIII – Most common type (Hemophilia A) IX Christmas factor – The Christmas disease (Hemophilia B) X Plasma Thromboplastin Antecedent (PTA) – Joint bleeding XI Hageman factor – High occurrence in Jewish population XII – Little to no trouble clotting XIII Fibrin Stabilizing Factor – No trouble clotting, but after the clot is formed it is very weak General Information • Hemophilia is one of the oldest known genetic disorders. • It is characterized by the inability for the blood to clot. It can lead to hemorrhages or excessive bleeding even from a minor scrape. Most hemophiliacs suffer from “arthropathy”, or bleeding in the joints. • Bleeding occurs due to the inability for the body to produce the required clotting factors. • 80% of all cases have an identifiable family history of the disease. • The large majority of those affected by hemophilia are males. • Approximately 1 in 10,000 males have hemophilia. Background • Hemophilia has been around for as long as human existence, but it became much more common since Queen Victoria and her descendants. • So many people in her family had this disorder because they had a limited gene pool. Royal Family Pedigree Causes • Hemophilia is primarily a genetic disorder, though about 20% of all cases have no genetic links. • The 20% of cases not associated with genetic traits are due to a mutation in which a “jumping gene” disrupts the blood clotting ability of the clotting factor. Causes Cont. • In this punnett square the hemophilic gene is the h because it is the recessive trait. The H is healthy clotting and the o is irrelevant because it is on the Y chromosome. • The genes of Hemophilia are on the X Chromosome. • 25% are effected here. Male XH Yo XH XHXH XHYo Xh XhXH XhYo Female Cause Cont. • When the mother is a carrier and the father is unaffected there is a 50/50 chance of their son having hemophilia and their daughter becoming a carrier. • When the father is a carrier of hemophilia and the mother is not all the daughters will be carriers but their sons will be normal. Cure • In mild forms, plasma transfusions can be administered to help clot the blood. • Physiotherapy can help to strengthen the muscles and joins, which will decrease the change for internal bleeding. • Currently, research is being done that is attempting to alter the genetic makeup and change the clotting factor. Source List • Microsoft Encarta Encylopedia 2004 • Http://www.geocities.com/hemophiliaclub/i nfo.html • http://www.liverpool.k12.ny.us/standards/lst andards/curriculum/sci/g6sci/punnett.html • http://www.people.virginia.edu/~rjh9u/roylh ema.html