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Hemophilia

Hemophilia. By: Maya Kolakowski. What is Hemophilia?. Hemophilia is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken. HEMOPHILIA.

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Hemophilia

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  1. Hemophilia By: Maya Kolakowski

  2. What is Hemophilia? • Hemophilia is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken.

  3. HEMOPHILIA • There are two types of Hemophilia, type A and type B. Both are caused by deficiencies in the amount of clotting factor in the blood (VIII or IX). When the blood does not have enough of one of these or is missing one clotting factor, the bleeding may end very slowly or may not stop at all.

  4. HOW YOU GET HEMOPHILIA • Hemophilia is a genetic disease and is passed on by the X chromosome (the chromosome that carries the clotting factor). • If a boy gets the X chromosome that carries the hemophilia gene he will become a hemophiliac. • If a girl get the gene, she will become the carrier of the gene, not showing symptoms of the disease. The carrier has a 50% chance of passing the gene on to her children every time she gets pregnant.

  5. TREATMENTS • The types of treatment methods available today are: • Plasma-derived products, • Recombinant coagulating factors • Gene therapy.

  6. HISTORY • Hemophilia has often been called ”The Royal Disease”. This is because Queen Victoria, Queen of England from 1837 to 1901, was a carrier. Her eighth child, Leopold, had hemophilia. • Two of Queen Victoria's daughters, Alice and Beatrice, were also carriers of hemophilia. They passed the disease on to the Spanish, German and Russian Royal Families.

  7. MUTATIONS • Mutations in the F8 and F9 genes cause hemophilia.Changes in the F8 gene are responsible for hemophilia A, while mutations in the F9 gene cause hemophilia B. The F8 gene provides instructions for making a protein called coagulation factor VIII. A related protein, coagulation factor IX, is produced from the F9 gene. Coagulation factors are proteins that work together in the clotting process. After an injury, blood clots protect the body by sealing off damaged blood vessels and preventing further blood loss.

  8. KARYOTYPE There is no karyotype for Hemophilia. You can't see what's wrong with the chromosome by just looking at it. There is an error in one or more base pairs in the DNA. This is way too small to be seen it's at the molecular level and it has to be detected using special tests.

  9. DIAGNOSIS • Doctor will ask about your personal and family medical histories. • Physical exam and blood test: How long it takes for your blood to clot, if your blood has low levels of any clotting factor, whether any clotting factors are completely missing from your blood

  10. CITATIONS • http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/ • http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=0&contentid=1 • http://kidshealth.org/parent/medical/heart/hemophilia.html • http://www.cdc.gov/ncbddd/hemophilia/

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