Hemophilia


Description:
Hemophilia is a rare blood disease that is normally in boys. The disease is inherited by mother to son. It is a disease that prevents blood from clotting properly. This disease is X-linked. This disease is caused by a mutated factor 8 which is a blood clotting factor. This disease is caused by lack of vitamin k in the body.

Inheritance:

The disease is inherited usually from mother to sons. Although the disease is on in males, many girls are the carriers of this bad gene. The chances of your children being normal are 50%. 25% will probably be carriers and 25% will have the disease.


Symptoms:
When a person with hemophilia’s skin is cut, the bleeding will continue after a long time. In, more severe cases the bleeding will occur without any injuries. Also, with severe Hemophilia, they can bleed to death. Internal bleeding occasionally occurs with out the hemophiliac’s awareness. Also, bruises that are unusual in location, or blood in urine.



Daily Life:



Diagnosis:
If hemophilia is suspected, the doctors will check your family’ health records. They also take blood tests to see if it’s right. With someone who has a cut, and bleed but the blood clot gets dislodged, the bleeding will continue.


Treatment:
Hemophiliacs get blood transfusions to replace the blood that they need. They need a replacement therapy that helps the blood flow better. A person will inject themselves with purified blood clotting factors to replace their missing platelets. They have to exercise to make muscles stronger and reduce the chances of swollen joints. Maintaining a healthy weight to reduce the pressure on joints and muscles.


Research:
Hemophiliacs work with hematologists (nurses and doctors who work with blood) to help reduce the excessive bleeding for you. Scientists are working on a project called gene therapy. Gene therapy is when you inject yourself with genetic information your body doesn’t have.




Additional Facts:
Only 1 in every 5,000- 10,000 boys gets diagnosed with hemophilia. “Hemo” comes from the Greek root word that means “blood” and “philia” which means “tendency to.” Hemophilia was originally called “the Christmas disease” because of the founder Steven Christmas. In 1952, Christmas was diagnosed by a distinct form of hemophilia.






Punnett Square:
Slide1.PNG

Pedigree Chart:




Slide2.PNG













Your PowerPoint jpeg of Pedigree Chart with key will be inserted here. (centered)



Resources: Kids Health ORG
Pub Med Health
Dolan DNA Center

Include hyperlink to websites that you used as part of your research.

http://kidshealth.org/index.html?gclid=CPGr24Ol9KgCFWVd5QodLGXVVA
http://www.ygyh.org/
http://www.ncbi.nlm.nih.gov/

Pictures:

external image photo2A.jpg


external image August+2009+215+Medium+Web+view.jpg