Hemophilia: The Royal Disease

What Is Hemophilia?

Hemophilia is a group of hereditary genetic disorders that impair the body’s ability to control blood clotting or coagulation. Etymology is as under:
Greek: haima = blood philia = to love.

Medical fraternity identifies different types of hemophilia. Hemophilia A is because of absence of clotting factor VIII. Hemophilia B is because of deficiency of factor IX. Hemophilia C is because of deficiency of factor XI. There are other types of hemophilia too but they are very rare. Hemophilia A is much more common than hemophilia B. These genetic deficiencies may lower blood plasma clotting factor levels of coagulation factors needed for a normal clotting process. When a blood vessel is injured, a temporary scab does form, but the missing coagulation factors prevent fibrin formation which is necessary to maintain the blood clot. Thus a hemophiliac does not bleed more intensely than a normal person, but for a much longer amount of time. In severe hemophiliacs even a minor injury could result in blood loss lasting days, weeks, or never healing completely. The critical risk here is with normally small injuries which, due to missing factor VIII, take long times to heal. In areas such as the brain or inside joints, this can be fatal or permanently debilitating.

Some interesting facts about hemophilia:
* An affected mother has 50% chance of passing the disease to her daughter.
* An affected father will always pass on the affected gene to his daughter.
* An affected father can never pass on the disease to his son.

History

The earliest possible implicit reference to hemophilia may have been in the Talmud, a Jewish holy text, which states that males did not have to be circumcised if two brothers had already died from the procedure. Hemophilia featured very widely in European royal families and it thus acquired the sobriquet-The Royal Disease. Today, Prince Charles of Britain suffers from this disorder. The term ‘hemophilia’ seems to have been coined by Hopff at the University of Zurich in1828. In 1937, Patek and Taylor, two doctors from Harvard, discovered anti-hemophilic globulin. Pavlosky, a doctor from Buenos Aires, found Hemophilia A and Hemophilia B to be separate diseases by doing a lab test. This test was done by transferring the blood of one hemophiliac to another hemophiliac. The fact that this corrected the clotting problem showed that there was more than one form of hemophilia.
Prior to 1985, there were no laws enacted within the U.S. to screen blood. As a result, many hemophilia patients who received untested and unscreened clotting factor prior to 1992 were at an extreme risk for contracting HIV and Hepatitis C via these blood products. It is estimated that more than 50% of the Hemophilia population, over 10,000 people, contracted HIV from the tainted blood supply in the United States alone.

As a direct result of the contamination of the blood supply in the late 1970s and early/mid 1980s with viruses such as Hepatitis and HIV, new methods were developed in the production of clotting factor products. The initial response was to heat-treat (pasteurize) plasma-derived factor concentrate, followed by the development of monoclonal factor concentrates, which use a combination of heat treatment and affinity chromatography to inactivate any viral agents in the pooled plasma from which the factor concentrate is derived. The Lindsay Tribunal in Ireland investigated, among other things, the slow adoption of the new methods.

Treatment

Though there is no cure for hemophilia, it can be controlled with regular infusions of the deficient clotting factor. Factor replacement can be either isolated from human blood serum, recombinant or a combination of the two. Some hemophiliacs develop antibodies (inhibitors) against the replacement factors given to them, so the amount of the factor has to be increased or non-human replacement products must be given, such as porcine factor VIII.

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