Hemophilia is a rare genetic blood clotting disorder that primarily affects males. People living with hemophilia do not have enough of, or are missing, one of the blood clotting proteins naturally found in blood. Two of the most common forms of hemophilia are A and B. In persons with hemophilia A (also called classical hemophilia), clotting Factor VIII is not present in sufficient amounts or is absent. In persons with hemophilia B (also called Christmas disease), clotting Factor IX is not present in sufficient amounts or is absent. People with hemophilia do not bleed more profusely or bleed faster than normal; they bleed for a longer period of time.
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Virtually all people who have hemophilia A or B are born with it. The majority of people with hemophilia have a family history (it is a hereditary disorder).
In as many as 30% of cases, there is no family history of hemophilia. In these cases, the mother may not be aware that she carries the gene for hemophilia, or a gene mutation may have occurred spontaneously.
For more information, see Who gets hemophilia?
A long history
Hemophilia was identified as early as biblical times. Doctors in medieval times were familiar with it as well. In 1803, a Philadelphia doctor published the first description of hemophilia in the United States. But it was not until 30 years later that hemophilia became widely recognized. Hemophilia later developed a reputation as the “royal disease” because it passed from Queen Victoria of England to her descendants throughout the royal houses of Europe.
More recent advances in hemophilia
The most significant advances in hemophilia treatment have been made in the last four decades. Baxter Healthcare Corporation introduced the first commercially available plasma-derived factor concentrate in the mid-1960s. This was a major advancement over earlier formulations, which contained much lower concentrations of antihemophilic factor. In the early 1970s, home treatment of hemophilia became widely available, offering people with hemophilia greater independence and reduced hospital stays. Today, recombinant DNA technology and the discovery of the genes that control production of Factor VIII have led to the development of recombinant factor concentrates that do not rely on plasma at all. Patients should discuss with their physicians which Factor VIII replacement therapy is best for them.