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Christmas Disease and Hemophilia

Inherited Blood Disorders

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Updated June 12, 2014

Close up view of a drop of blood on a finger. This could be accidental or the result of a medical finger prick for a blood test.
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Hemophilia -- an inherited tendency of males to bleed -- is an ancient disease only brought under control in the last 50 or so years. Jewish texts of the second century A.D. refer to boys who bled to death after circumcision, and the Arab physician Albucasis (1013-1106) also described males in one family dying after minor injuries.

In more recent history, Queen Victoria of Britain's son Leopold had hemophilia, and two of her daughters, Alice and Beatrice, were carriers of the gene. Through them, hemophilia was passed to the royal families in Spain and Russia, leading to one of the most famous young men with the disease, Tsar Nicholas II's only son, Alexei.

About 1 in 10,000 people are born with hemophilia A. About 1 in 50,000 people are born with hemophilia B.

Causes and Types

Although the disease was known and written about, in the past young men simply died of it because physicians didn't know what caused it or how to treat it. In the 1800s, physicians thought that the bleeding occurred because the blood vessels were fragile. In 1937, a substance was found in normal blood that would make hemophilic blood clot, which was named "anti-hemophilic globulin."

In 1944, researchers found in one case that when the blood from two different hemophiliacs was mixed, both were able to clot. Nobody could explain this until 1952, when researchers in England realized there were 2 types of hemophilia. They had been studying a 10-year-old boy with hemophilia named Stephen Christmas who didn't seem to have the "typical" disease. They called his version hemophilia B, or "Christmas disease," and the more prevalent kind hemophilia A, or "classic hemophilia." Christmas disease affects only 15-20% of people with hemophilia.

Coagulation Factors

With the discovery of A and B types came the realization that there must be different types of "anti-hemophilic globulin" involved in the clotting process. Names were assigned to these various "coagulation factors" by an international committee in 1962. Hemophilia A is a deficiency of Factor VIII, and hemophilia B is a deficiency of Factor IX.

Treatment

Once it became clear that hemophilia was caused by a deficiency of a coagulation factor, replacement of the missing factor became the method of treatment. In the early 1950s animal plasma was used. By the 1970s, coagulation factor concentrates made from human plasma were available. Unfortunately, scientists now know that those concentrates carried viruses such as hepatitis and HIV, and many people with hemophilia became infected with these diseases.

Today, recombinant (genetically engineered) versions of coagulation factors are produced, which eliminates the risk of viruses. Children with hemophilia are given coagulation factor as a preventative treatment to reduce chronic bleeding and help them live long, healthy, and active lives.

Sources:

"History of Bleeding Disorders." What Are Bleeding Disorders?. 2006. National Hemophilia Foundation. 17 Dec 2008

Shord, S. S., & C. M. Lindley. "Coagulation products and their uses." Am J Health-Syst Pharm 57(2000): 1403-1417.

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