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The Royal Disease

  • ​Although hemophilia was first named in 1828, this rare sex-linked disorder is popularly known because of Queen Victoria, who reigned from 1837 to 1901 and was a carrier of the disease.
  • It became known as the “Royal disease” as it quickly spread throughout the royal families of Europe (see the pedigree below)(Herreid, and Aronova-Tiuntseva).

History

Hemophilia, also known as haemophilia in the UK, is a congenital bleeding disorder characterized by an inability to properly form blood clots. Hem- or Hemo- is rooted in the latin prefixes, haem- and haemo-; meaning blood. The suffix -philia means “tendency toward” and is derived from  the Greek word philia, meaning friendship or affection. Together Hemo-philia can be loosely translated to 'the love of blood'. 

Early History

20th Century 

  • ​​​​The characteristics of hemophilia were first identified by Jewish rabbis as evident by the Talmud. The Talmud, a collection of Jewish Rabbinical writings from the 2nd century AD, stated that male babies did not have to be circumcised if two brothers had already died from the procedure. The deaths of the babies were most likely caused by prolonged and uncontrolled bleeding, a common problem with hemophiliacs. 
  • In 1803, Dr. John Conrad Otto, a physician, wrote the first medical description of hemophilia noting the sex-linked inheritance of the disease as well as the occurrence of premature death (Lee).
  • The word hemophilia was first used by Hopff at the University of Zurich in 1828 in a description of the condition (Canadians).

Pedigree: The Royal Family

  • The pedigree exemplifies the x-linked, recessive behavior of the disease.
  • Queen Victoria's descendants introduced the disease into nearly every royal family in Europe.  
  • In the 20th century doctors looked for the cause of hemophilia. Until then, they had believed that the blood vessels of hemophiliacs were simply more fragile.
  • In the 1930s doctors studied defective platelets thinking them as the likely cause.
  • In 1937 Patek and Taylor, two doctors at Harvard, found they could correct the clotting problem by adding a substance which came from the plasma in blood. This was called anti-hemophilic globulin.
  • In 1944, Pavlosky, a doctor from Buenos Aires, Argentina, did a lab test which showed that blood from one hemophiliac could correct the clotting problem in a second hemophiliac and vice-versa. He had stumbled upon two hemophiliacs each with a deficiency in different proteins - factor VIII and factor IX. This led to the recognition in 1952 of hemophilia A and hemophilia B as two distinct diseases.
  • In the 1960s the clotting factors were identified and named.
  • An article in Nature in 1964 described the clotting process in detail. The interaction of the different factors in blood clotting was named the coagulation cascade.
  • In the 1950s and early 1960s, hemophiliacs were treated with whole blood or fresh plasma. Unfortunately, there wasn't enough of the factor VIII or IX proteins in these blood products to stop serious internal bleeding. Most people with severe hemophilia and some people with mild or moderate hemophilia died in childhood or early adulthood.
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