Hemophilia

Description:
Hemophilia is a life long bleeding disorder. In a hemophiliac their clotting factors do not work properly. They do not have enough protein for the factors to clot the blood. In the disorder the bleeding is not faster, but it’s longer. It includes internal bleeding, that can be fatal, bruising all over body, and bleeding in joints and muscles.

Inheritance:
Hemophilia A is caused by changes in the F8 gene. Changes in the F8 gene will not create the correct coagulation factor VIII. Hemophilia B is caused by mutations in the F9 gene. The F9 gene produces coagulation factor IX protein. Mutations in the F8 and F9 genes cause abnormal production of the proteins for clotting. Acquired Hemophilia happens when autoantibodies are produced and attack the coagulation factor VIII. Hemophilia is inherited through an X-linked recessive pattern. The condition is located on the X chromosome. Mutations in both copies of the gene need to occur for this disorder. It is the female’s altered X gene that is mutated and passed on; not males.


Symptoms:
· Bleeding into muscles, resulting in bruising.
· Prolonged bleeding after male child is circumcised.
· Bleeding after umbilical cord is cut.
· Abnormal bleeding after injury or surgery.
· Pain or swelling from bleeding in joints.
· Frequent nosebleeds.
· Blood in the urine.





Daily Life:





Diagnosis:
First the doctors will check for family history. Then, they will take a series of exams such as; Physical exams, and Blood tests. They will see how long it will take for your blood to clot. See if you have a missing clotting factor or a low clotting factor. You can be either a mild, moderate, or severe case of hemophilia based on the percentage of normal clotting factors.


Treatment:
The hemophiliac goes through a series of therapy such as; Replacement therapy, Preventive therapy, Prophylactic therapy, and Demand therapy. They also inject the missing clotting factors they need, either factor VIII or factor IX, in to their vein. Some other oral treatments could be Antifibrinolytic medication and blood clotting pills. If they have constant nosebleed they will take nasal sprays.



Research:
Scientists are working on gene therapy. Gene therapy is when they take a cell from a hemophiliac and genetically alter it. Doctors are also collecting annual info from their patients and asking how they life everyday and how they feel after certain activities. Other than that, they are gaining understandings for the disease, provide clinics, and are testing on dogs and mice.


Additional Facts:
A chance of Hemophilia with a normal mom and diseased dad is 100% positive and 0% negative for the boys. A chance with a mom carrier and a normal dad is 25% for both boys and girls. A chance with a carrier mom and diseased dad is 25% for both boys and girls. A chance with both parents diseased is 50% boys and 50% girls. A chance with diseased mom and normal dad is 50% carrier girl and 50% affected boy. 1 in 10,000 people get hemophilia A and 1 in 40,000 people get hemophilia B.



Punnett Square:


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Pedigree Chart:


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Pictures:


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Resources:

http://www.nlm.nih.gov/
Pub Med Health
http://www.webmd.com/
http://www.dietcare.com/
http://www.nhlbi.nih.gov/

**http://www.wfh.org/index.asp?lang=EN**