Hemophilia

Description:
Any of several x-linked genetic disorders symptomatic chiefly in males, in which excessive bleeding occurs owing to the absence or abnormality of a clotting factor in the blood. Mostly males get this disorder, but it’s very rare. One in every ten-thousand boys are born with it.


Inheritance:
The genes for the clotting factors are located on the X chromosomes. Therefore, hemophilia is caused when a defective X chromosome gene is inherited. Females have two X chromosomes, one inherited from the father and one from the mother; While the male has one X chromosomes inherited from the mother and a Y chromosome inherited from the father. A direct inheritance from hemophilia from father to son is not possible. If female inherits only one defective X chromosome, she does not suffer from the disorder.



Symptoms:
The symptoms of this disorder are,
- Frequent nose bleeds.
- Excessive bleeding after any surgery.
- Excessive bleeding after any dental procedure, like a tooth extraction.
- Has internal bleeding occur in joints, muscles, a person may suffer from joint pain.



Daily Life:
Our bodies have 12 clotting factors that work together in this process. Having too little of factors is what causes hemophilia. A person with hemophilia lacks one factor. Well since hemophilia is an inherited disorder where the proteins needed to form blood clots are missing or reduced, every cut or injury affects a person with Hemophilia. If depending on whether your Hemophilia is severe, mild, or moderate your cognitive ability is reduced, to prevent scraps and cuts. Hemophilia is treatable through plasma donations and certain medicine; however you have to always be cautious.



Diagnosis:
If hemophilia is suspected, or if you appear to have a bleeding problem, your doctor will take your personal and family, medical histories. This will reveal whether you or anyone in your family has a history of frequent and/or heavy bleeding and bruising. You will also, most likely, have a physical exam and blood tests to diagnose hemophilia. Blood tests are used to find out: how long it takes for your blood to clot, whether your blood has low levels of any of the clotting factor, whether one of the clotting factors is completely missing from your blood.





Treatment:
The only treatment available is replacement treatment. The clotting factor that is absent in the blood of hemophiliac patients in infused externally through blood transfusion. This has to be done periodically. Once the blood clotting factors are infused in the person’s body, they prevent joint damage. It’s advisable for severe hemophiliacs to undergo treatments as soon as possible because excessive bleeding may also result to death. Even though these treatments are expensive, they are effective.



Research:
Scientists are working on some theories. Removing cells from a person with hemophilia and scenically changing it. There is no cure for hemophilia at this time, but much promising research is being done. People with hemophilia stop bleeding by taking an injection of the clotting factor that is missing from their blood. Some people with hemophilia give themselves this injection; others go to a hospital or clinic for treatment. By using clotting factor and visiting a doctor or hemophilia clinic regularly, the person with hemophilia can expect to have a normal lifespan.
The clotting factor used to treat hemophilia is very expensive. A common type of bleeding, into a joint, can cost $200 to $6,000 to treat one time, depending on the person's weight. A person with hemophilia may spend from $40,000 to over $200,000 each year for his medical care.



Additional Facts:
People suffering from this condition tend to bleed longer than normal, since the missing protein is actually the clotting factor. There is not enough of clotting factor (or it’s completely absent), and that is causing prolonged bleeding. Hemophilia is inherited condition and passed through the family. Only men can suffer from this disease but both men and women may be carriers of hemophilia. There were also a few cases of female hemophilia, the condition which is extremely rare. It happens when the baby girl gets passed both sets of genes that cause hemophilia, from her mother and her father. Some 30% of diagnosed hemophilia cases are not genetically predisposed, but caused by spontaneous mutations.




Punnett Square:

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Pedigree Chart:

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Resources:

www.buzzle.com
www.nhlbr.com
www.medicinenet.com