Why and How On Earth A Disease Is Called Royal Disease

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Hemophilia has been called the Royal Disease because Queen Victoria, Queen of England from 1837 to 1901, was a carrier. Her daughters passed the mutated gene on to members of the royal families of Germany, Spain, and Russia.

What is hemophilia?

Hemophilia is not one disease but rather one of a group of inherited bleeding disorders that cause abnormal bleeding and poor blood clotting. The term is most commonly used to refer to two specific conditions known as hemophilia A and hemophilia B. Hemophilia A and B is distinguished by the specific gene that is mutated.

Causes of hemophilia.

Hemophilia is caused by a genetic mutation. The process of blood clotting involves a series of complex mechanisms, usually involving 13 different proteins classically termed factors I through XIII and written with Roman numerals

Hemophilia A is caused by a mutation in the gene for factor VIII, so there is a deficiency of this clotting factor. Hemophilia B (also called Christmas disease) results from a deficiency of factor IX due to a mutation in the corresponding gene.

How to diagnose for hemophilia.

The majority of patients with hemophilia have a known family history of the condition. However, about one-third of cases occur in the absence of a known family history. Most of these cases without a family history arise due to a spontaneous mutation in the affected gene. Other cases may be due to the affected gene being passed through a long line of female carriers.

TREATMENT OF HEMOPHILIA.

The main treatment is the replacement of the blood clotting factors. Clotting factor concentrates can be purified from human donor blood or made in the laboratory using methods that do not use donor blood. This type of therapy is known as replacement therapy. Clotting factor replacement therapy is carried out by infusing the clotting factor concentrates into a vein, much like a blood transfusion.

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