1 / 9

Hemophilia

Hemophilia. BG. What is Hemophilia?. Genetic disease Inability for blood to clot properly, also the absence of anti-hemophilic factor. X-linked recessive (transmitted through female carriers)

kenton
Télécharger la présentation

Hemophilia

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Hemophilia BG

  2. What is Hemophilia? • Genetic disease • Inability for blood to clot properly, also the absence of anti-hemophilic factor. • X-linked recessive (transmitted through female carriers) • More prominent in men – females only affected if father has the disease and the mother is a carrier, which is rare • Males with hemophilia do not pass the gene to their sons; however, they do pass the gene to their daughters http://www.memorialhermann.org/library/healthguide/en-us/images/media/medical/hw/hemophilia.gif

  3. History • Hemophilia was known in ancient times, prior to the development of modern medicine (second century AD) • 1800s • 1803: Dr. John Conrad Otto (Philadelphia): First to publish medical information • 1828: Friedrich Hopff (Germany): First to coin term hemophilia • Also known as “The Royal Disease” because many of queen Victoria's family members had hemophilia • Also people used to get blood transfusions to treat hemophilia but back then there was so many risks of blood transfusions because many people got HIV from it, and there are still lawsuits going on now about it

  4. Causes • Abnormal clotting factors (which make your blood) on the x chromosome • Hemophilia A (also known as classic hemophilia) is a person who has type A hemophilia which has reduced amount or reduced activity of Factor VIII(8) • **There is no big difference between type A and B besides the fact that A is more common** • Hemophilia B (also known as Christmas disease) caused by the deficiency of a blood plasma protein called Factor IX(9) • Hemophilia C (also known as willebrand’s disease) absence of Factor XI(11) - People who have hemophilia C it’s less severe; girls and boys have it equally where as in type A and B its mostly males!

  5. Symptoms • Painful swollen joints • Swelling in legs or arms • Frequent deep bruises • Excessive bleeding from minor cuts • Spontaneous nose bleeds • Blood in urine or stool • Bleeding into joints and associated pain and swelling http://www.encorewiki.org/download/attachments/5755/hemophilia.jpg http://www.moondragon.org/images2/mildhemophilia.jpg

  6. Diagnosis • Usually people suspect they have the disease through excessive bleeding with little cuts or bruising ( a simple paper cut), also some people experience abnormal headaches • Diagnosis of the disease is confirmed through a blood test • Can determine which type and how serious (mild, moderate, severe) • Hemophilia is usually detected at a very young age, about the age of 1

  7. Treatment • Specialist: Hematologist • Replacement Therapy (RT): people are injected with the factor they are missing (Hemophilia A – factor VIII, Hemophilia B – factor IX, hemophilia C XI) • Mild hemophilia ~ RT not required; may have Desmopressin treatment (man-made hormone) – can be injected or nasal spray • Moderate hemophilia ~ can use Desmopressin treatment or RT when bleeding occurs, or sometimes as a preventative measure. • Severe hemophilia ~ need to have RT; typically done at home but could also be done at the hospital or out-patient clinic. Depending on activity level can be long-term or short-term treatments • Also some side effects of Desmopressin are facial flushing • mild headache • nausea and abdominal cramps • Joints are sometimes so swollen that they can’t walk anymore

  8. Future Outlook/Research • Gene Therapy is the major thing that doctors and universities are focusing on • There are clinical testing procedures (injections) being done on animals and some people, but the clinics are not open to the public • Gene therapy has been tested mostly on dogs and mice, but not a lot on humans • So far there is no 100% cure for hemophilia

  9. Bibliography MDadvice. HEMOPHILIA. Retrieved March 28th,2008 on the world wide web: http://www.mdadvice.com/library/symp/illness262.html Griffin,Gregory. Hemophilia. Retrieved April 12th,2008 on the world wide web: http://www.kidshealth.org/teen/diseases_conditions/blood/hemophilia.html Keane, Miller. (1972). “Hemophilia”. Encyclopedia and Dictionary of medicine and nursing. (Pg 246). Toronto: W.B saunders company. ________. Hemophilia. Retrieved April 13th,2008 on the world wide web: http://www.louisiannahemophilia.org/hemophilia_b.htm Giangrade, Paul. History of hemophilia. Retrieved May 28th,2008 on the worldwide web: http://www.wfh.org/2/1/1_1_3_HistoryHemophilia.htm National blood institute. What causes hemophilia. Retrieved May 28th,2008: http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_causes.html Chao, HJ. Study published on hemophilia B gene therapy by intramuscular injection. Retrieved May 28th,2008 on the world wide web: http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=118&contentid=968 McCane, Kathryn.(2002) “ Pathophysiology The biologic Basis for disease in adults & Children”. (pg 915,916).

More Related