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Hemophilia

Hemophilia. By Torin Callahan and Katie Nelson. Hemophilia. T he inability for blood to clot. http://brucemhood.wordpress.com/2008/09/09/cellular-memories-and-bad-blood/. Inheritence. Changes in the F8 gene result in hemophilia A Effects coagulation factor VIII

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Hemophilia

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  1. Hemophilia By Torin Callahan and Katie Nelson

  2. Hemophilia • The inability for blood to clot. http://brucemhood.wordpress.com/2008/09/09/cellular-memories-and-bad-blood/

  3. Inheritence • Changes in the F8 gene result in hemophilia A • Effects coagulation factor VIII • Changes in the F9 gene result in hemophilia B • Effects coagulation factor IX • Recessive in females, dominant in males • Sex linked – X chromosome http://cnx.org/content/m15083/latest/ http://dotconnectoruk.blogspot.com/2010/12/dna-is-influenced-by-words-and.html

  4. Possible Genotypes • Hemophilia is caused by a change in either the F8 or F9 genes, causing non functional or an insufficient amount of clotting factors

  5. Statistics • 1 in 4,000 males for type A • 1 in 20,000 males for type B

  6. Punnet Squares

  7. Diagnosis • Blood sample is tested (placed in a centrifuge) which can measure whether or not a clotting factor abnormality is present http://www.sciencephoto.com/images/download_lo_res.html?id=775300528

  8. Physical Symptoms • Symptoms include excessive bleeding, nosebleeds, clotting test shows that blood does not clot properly, bruising, tight joints (swollen, hot, etc. if bleeding is present in the joints), bleeding in the brain can cause long lasting and severe headaches, vomiting, sudden weakness, and seizures.

  9. Life Expectancy • Life expectancy: Without treatment, an individual with hemophilia is not likely to reach adulthood. With treatment, the life expectancy is increased greatly, to roughly 10 years less than the average life expectancy for a healthy man.

  10. Treatment • Replacement therapy is a main method of treatment, which includes the injection of clotting factors in the blood stream. These can either be those taken from blood samples, or artificially made replacements called recombinant factors.

  11. New Research • Current research is looking into clotting factors VIII and IX, using such methods as genetics and protein biochemistry. Researchers are also examining increased bleeding in AIDS patients.

  12. Quality of Life • Quality of life is similar to those without the condition. However, they must be very careful about cuts and bruises, which limits their ability to participate in sports and other physical activity.

  13. Limitations • Since most have this condition at birth, they may be caused to miss out on many key parts of childhood. It has been discovered that sports play an important role in social development, as well as self esteem. For this reason, those with hemophilia have been known to be lacking in these areas. Increasing knowledge in the importance of these qualities has inspired sports camps for adults with the condition.

  14. Helpful links • http://www.hemophiliamoms.com/Resources/Educational-Materials.aspx?gclid=CMaq3MOSrKcCFcfe4AodQBWADA • http://www.ehow.com/how_2070417_cope-hemophilia.html • http://www.mayoclinic.com/health/hemophilia/DS00218/DSECTION=coping-and-support

  15. Possible Cure • The most promising lead for a cure for this condition involves gene therapy. This is performed by removing several of the cells with defective DNA (usually from the liver) and genetically altering them with the correct genetic information. When the cells are re-inserted, they should divide and generate a whole new force of cells with the proper DNA. Currently, most opt for treatment by replacement therapy rather than the genetic solution.

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