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What Is Hemophilia?

Blood tests can determine if a person has hemophilia.
Improper blood clot formation is a symptom of hemophilia.
Unexplained bruising is common among hemophiliacs.
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  • Written By: J.Gunsch
  • Edited By: Niki Foster
  • Last Modified Date: 01 November 2014
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Hemophilia is a hereditary blood disease that results in the blood’s failure to clot normally. Those suffering from this condition can bleed for a long period of time even from the smallest cut or injury. Unexplained bruising is also common. Although bleeding from external injuries is a problem for those suffering from the disease and can be severe, the danger of hemophilia lies in the tendency to bleed internally. Bleeding into the muscles and joints is a common painful symptom, but major internal organs such as the brain, spinal cord, liver and other critical systems can begin to hemorrhage unexpectedly, putting a person’s life at imminent risk.

This disease is caused by an absence of an important protein found in normal blood that aids in clotting. Health professionals acknowledge two different types of hemophilia: type A and type B. These two types differ in the type of protein that is deficient or absent in the blood. The protein that causes type A is called the factor VIII protein, and hemophilia B is caused by the protein referred to as factor IX.

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Both types are extremely rare; however, type A is slightly more common than type B. Hemophilia is found almost exclusively in males, although female carriers may experience mild symptoms. Individual cases are considered to be mild, moderate or severe depending on the deficiency of the proteins that normally help the blood to clot. Those with mild hemophilia generally have only 30% of the average level of the clotting protein. Moderate disease is the result of only 5% of the normal level of protein, and severe results from less than 1% of the normal presence of the protein.

Hemophilia is usually diagnosed within the first year of life, and modern treatments are effective. Factor replacement therapy using synthetic proteins is the most common and effective treatment. Other medications are available to boost the body’s own production of proteins or to aid clotting by other means.

In history, one of the most famous and tragic cases affected the intended heir to the throne of Russia. The son of Nicholas II, the last Czar of Russia, Alexei suffered from severe hemophilia. The ignorance of the disease at the time caused Alexei’s distraught parents to trust the mystical Rasputin, who was able to bring the child relief from his disease. The power and authority that Rasputin gained through his healing abilities ultimately led to the fall of the Empire and the demise of the Romanov family. Alexei’s disorder inspired the common description of this condition as “The Royal Disease”.

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Another reason that hemophilia is referred to as the "Royal Disease" is because Queen Victoria of England was a carrier of it; she passed it on to other royal families in Europe through her nine children.

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