Hemophilia

HEMOPHILIA
[|How Is It Passed On?] [|What Are The Causes?] [|What Are The Symptoms?] [|What Does It Do?] [|Is It Curable?] [|Put It In Context.] [|Credits.]**
 * [|What is Hemophilia?]

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What Is Hemophilia?
//Hemophilia// is a genetic disease that prevents blood from clotting properly. ("Hemo" means blood). Consequently, this causes the sufferer to bleed severely from even the slightest cut.

There are several types of hemophilia, but the following are the most predominant and common: - Hemophilia A (lack of factor VIII) - Hemophilia B (lack of factor IX)

__**Hemophilia History**__ Hemophilia was recognized, but not named, since ancient times. There are many incidents that have been recorded which date back to the 2nd Century A.D. that show Rabbi's and Arab physician's patients who die from bleeding to death during a circumcision. Then, in 1803, named Dr. John Conrad Otto had a theory of hemophilia which was "a hemorrhagic disposition existing in certain families". He recognized that the condition was hereditary and affected males. He traced the disease back through three generations to a woman who had settled near Plymouth, New Hampshire, in 1720. It was later called "hemophilia" by Hopff at the University of Zurich in 1828. Hemophilia is also called "The Royal Disease". This is due to the fact that Queen Victoria, the Queen of England during 1837 to 1901 was diagnosed with it. Leopold, her eight child, was also diagnosed with it and had constant hemorrhages. At the age of 31 Leopold died of a brain hemorrhage. His daughter, Alice, was a carrier and her son as well, Viscount Trematon, who also died of a brain hemorrhage in 1928. Alexandra, Queen Victoria's granddaughter who married Tsar Nicholas in the early 1900's was also a carrier of hemophilia. She had passed it on to her first son, Alexei. The monk Rasputin practiced hypnosis on Alexei to dull his pain. Not only did this method turn out to be a plausible pain killer, but it also helped stop or slow down hemorrhages. Finally, hemophilia was also seen within the Russian Royal family. Two of Queen Victoria's daughters Alice and Beatrices were both carriers of hemophilia. During their period of Russian Royalty, they had passed it on to the Spanish, Germand and other Russian Royal families.


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How Is It Passed On?
Hemophilia, both types A and B, are genetic diseases inherited from a gene on the X chromosome. Since male has an X and Y chromosome and females have two X's, if a mother is a carrier of hemophilia, there is a 50% chance that it will be passed onto her son.

Males who inherit the defective gene will develop hemophilia - and pass it onto their **daughters** only! Females who inherit the defective gene will become carriers of hemophilia - and may pass it onto their **sons** only! (50% chance). Although most females who are carriers of the disease do not show any symptoms or be affected in any way, some may have excessive menstrual bleeding, frequent nosebleeds, or excessive bleeding following surgeries.

However, in about 30% of hemophilia cases, there is no prior family history of the disease.

image from __The University Hospital__


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What Are The Causes?
The absence or dysfunction of the blood clotting protein causes Hemophilia. The gene that determines the blood clotting factors are located in the X chromosome. This protein is responsible for forming clots over wound, to stop the bleeding. Without this, people with Hemophilia can bleed for days as the clot is constantly being removed and the bleeding continues.

Click [|here]for an animation showing what happens in the blood vessel and the mutation in the X chromosome.


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What Are The Symptoms?
Hemophilia produces many symptoms, but the most common are:

- Bruising - Bleeding into joints - causes pain, immobility and defects muscles - causes swelling, pain, and sometimes permanent deformities brain - causes permanent brain damage, or brain dead.

media type="youtube" key="a8s8Al3rX_4"
 * Here are a few videos showing what Hemophilia is and it's effects.**


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What Does It Do?
Although deaths rarely occur from hemophilia **itself**, complications such as coagulation (when blood changes from liquid to a solid/semi solid state), bleeding out, and others often result in death.

Hemophilia itself, as stated above, doesn't allow the blood to clot properly. Normally, when people get a cut, the body naturally protects itself by sending platelets (sticky cells in the blood) to the cut and blocks it. However, people with hemophilia don't have a high platelet count, so if they get a cut, chances are they'll bleed a lot more than people without the disease will.

This can lead to further complications, and loss of blood can be a very serious issue.

media type="youtube" key="QXtvOxIxFls"


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Is It Curable?
While not //curable//, there are a wide variety of treatments that can help alleviate the symptoms of hemophilia, such as: - blood transfusions - prophylactic (preventative) measures to help with clotting A regular, preventive infusions of a clotting factor, two or three times a week may help prevent excessive bleeding.

Physical therapy can help treat internal bleeding which causes damage to the joints. The therapy can help the joints function better, by protecting the movement and helping stiff or badly deformed joints, giving the patient more comfort and ease when moving.


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Put It In Context.
In 2001, the US had a running count of 20,000 people with hemophilia. On average in the US, approximately 400 babies are born with hemophilia. In the US, there were 1,681 deaths resulting directly from hemophilia in 2000. Every day, 9 people from around the world die from complications with hemophilia. Hemophilia A occurs 1 in 10,000 people, and hemophilia B occurs 1 in 40,000.


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Credits.
[|Canadian Hemophilia Society] [|The University Hospital] [|The University of Maryland] [|Kids Health] [|Your Genes Your Health] [|National Heart Lung Blood Institute]


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