Hemophilia


Description:
Hemophilia is a bleeding and clotting disorder. People with hemophilia may bleed for a long time after injury or accident. Also, may cause bleeding in the joints that also cause pain. (Knee, ankles, and elbows) Anyone can have these disease even babies. If this disease is not treated like, a person that has severe hemophilia can bleed to death.
Inheritance:
Each years, about 400 infants are born with the disorder. About 18,000 people in the US have hemophilia. Usually occurs in males. Hemophilia is also X-liked. Also there are two type of hemophilia A and B. Hemophilia B is less common than hemophilia A. In which one protein needed to from blood clots is missing or reduced. But female only become carrier. Females can become carrier because they have two X chromosome. Males have one X chromosome and one chromosome smaller missing the blood clotting gene so they get hemophilia to counter out the bad gene.
Symptoms:
The symptoms for hemophilia are bleeding into the muscle or joints, and many larger or deep bruises. It is also painful, lasting headache, double vision, and heavy bleeding from a minor cut. Bleeding often results from falling. Also bleeding into a joint or muscle that cause pain and swelling. People with this disease can be easily bruised and also bleeding in the brain might occur.
Daily Life:

Diagnosis:
There are blood test that you can take to see if you might have hemophilia A or B. Mild hemophilia 5-30 percent of normal clotting factor. Moderate hemophilia is 1-5 percent of normal clotting factor. Severe hemophilia is less than one percent of normal clotting factor. Also before diagnosed the doctor must perform several blood test rules out other disorder. The final test is a factor activity test.
Treatment:
The treatment for this disease is that you can get a blood transfusion. Also prophylactic is a treatment with infused clotting factor. Also need to have more vitamins K. They inject themselves with purified clotting factors to prevent or stop bleeding episodes. You can also replace the missing clotting factor.
Research:
The disease is cause by mutations to a single gene. It could be cured if trials of the disorder discover a way to replace. Researcher seeks to replace the defective gene with a normal and fully functional gene. These genes will be carries into the body using a vector. The virus infects cells with the healthy gene overriding the mutated hemophilia gene.
Additional Facts:
Hemophilia B, it was originally called the “Christmas disease” for the first person diagnosed with the disorder back in 1952. There’s only two major type of hemophilia A and B. Hemophilia A is a classic hemophilia and a common type. The early 1980s, most people with hemophilia were infected with HIV. It depends on the severity of the hemophilia symptoms.
Punnett Square:
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Pedigree Chart:
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Resources:
National heart, lung, and blood institute
http://m.medlineplus.gov/topic/hemophilia.htm
University of Maryland medical center
http://www.umm.edu/blood/hemophil.htm
U.S department of health & human services
http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_causes.html
Pub Med Health


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