Hemophilia


Description:
Hemophilia is a rare blood clotting disorder. With this disorder, you do not have enough of, or are completely missing one of the clotting proteins in your blood. Without it, your blood cannot heal itself properly. All blood is affected by this disorder. There are two major types of Hemophilia: Hemophilia A and Hemophilia B. This disorder is an x-linked disorder, and usually affects males. (TNR 12)
Inheritance:
Usually, in almost all cases of hemophilia, you are born with it. It’s usually sons who get Hemophilia completely, because it is X-linked. Females are highly likely to only be carriers. Hemophilia is located in the X sex chromosome. The changes that make Hemophilia are due to two genes: the F8 gene, and the F9 gene. Sometimes, Hemophilia can be a mutation. The cause of acquired Hemophilia is usually unknown. With Hemophilia A, 1 in 5,000 males have the disease. However, with Hemophilia B, only 1 in 20,000 males have the disease. There is a 50% chance of passing it on. According to a survey, there are 93,116 people [approximately] with Hemophilia A, and 18,830 people [approximately] with Hemophilia B.

Symptoms:
Some of the symptoms of Hemophilia can be bleeding into the muscle, usually with a deep bruise, prolonged bleeding after being circumcised, prolonged bleeding after the umbilical cord is cut at birth [this is a rare symptom],bleeding into the joint or muscle that causes pain and or swelling, abnormal bleeding after an injury or surgery, easy bruising, frequent nosebleeds, blood in the urine, or bleeding after dental work.

Daily Life:

Diagnosis:
When trying to diagnose Hemophilia, they will take your personal and family medical history and look to see if heavy bleeding is involved. If anything looks suspicious, they will take a physical exam, and a blood test. With this blood test they can find out: how long your blood would take to clot, whether your blood has low levels of any clotting factors [or if one of the clotting factors is missing completely]. If they find out that you do have Hemophilia, it can be mild, moderate, or severe. It’s best to find out as quick as possible- as the condition can worsen when your young. Luckily, it can be diagnosed within a month of the newborn’s life.

Treatment:
If you can find Hemophilia treatment, it will most likely be replacement therapy. This is where the low [or missing] clotting factor is injected into the veins. Usually, the clotting factor is made from human blood. There can be some trouble with replacement therapy, however. The body can develop antibodies (proteins) that act against the clotting factor. It will never even reach you. If the blood had an infection, it can travel into the body and affect it too: so you would have two diseases instead of just Hemophilia. If there is any delay in the treatment, it can cause damage to parts of the body.

Research:
For Hemophilia, the federal government funds a nationwide network of centers dedicated to the treatment of Hemophilia. In the centers, medical experts provide a wide variety of treatment, education, and support. People who get care in anyplace other than a center are much more likely to bleed or have some sort of issue.

Additional Facts:
With Hemophilia, you can still live a full and active life. You’re also highly likely to live a normal lifespan. Hemophilia A can affect 1 in 5,000 males, while Hemophilia B is Far less likely: 1 in 20,000 males.

Punnett Square:
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Pedigree Chart:
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Resources:

Baxter Heathcare's Hemophilia Site:
http://www.thereforyou.com

Genetics Home Reference:
http://www.ghr.nlm.nih.gov

WebMD:
http://www.webmd.com

BloodIndex:
http://www.bloodindex.com

National Heart, Lung, And Blood Institute:
http://www.nhlbi.nih.gov

Pictures Of Hemophilia:
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