The History of Hemophilia

People in ancient times wrote about blood and bleeding problems. They could see that some people bled differently. But they knew very little about how blood clots. The first modern description was in 1803 by Dr. Conrad Otto who described an inherited bleeding condition affecting males who he called “bleeder.” It was not until just before World War II that doctors learned that Hemophilia A was caused by a problem with a protein in the blood, later called factor VIII. Eleven other blood factors were recognized in the 1950s. They were given Roman numeral names in 1961 to avoid confusion.

Hemophilia has been called a "royal disease". This is because the Hemophilia gene was passed from Queen Victoria (Hemophilia B carrier), who became Queen of England in 1837, to the ruling families of Russia, Spain, and Germany. Queen Victoria's gene for Hemophilia was likely caused by spontaneous mutation. Of her children, one son, Leopold, had Hemophilia B, and two daughters, Alice and Beatrice, were carriers. Beatrice's daughter married into the Spanish royal family. She passed the gene to the male heir to the Spanish throne.

Queen Victoria's other daughter, Alice, had a carrier daughter, Alix. Alix became Empress Alexandra at her marriage to Russia's Czar Nicholas in 1894. Their son, born in 1904 and named Alexis, inherited Hemophilia from his mother. The young man Alexis was treated for bleeds by the mysterious Rasputin, known as a “holy” man with the power to heal. The fascinating story of this royal family is told in the book Nicholas and Alexandra by Robert Massie (the father of a son with Hemophilia).

Hemophilia research has come a long way since the early descriptions. Around 1900, scientists found that human blood could be divided into groups or types. This made blood transfusions much more successful. In 1930, scientists learned how to separate blood into its major parts, plasma and red cells.

In the early 1960s, Dr. Judith Graham Pool discovered a process of freezing and thawing plasma to get a layer of factor-rich plasma (cryoprecipitate). Cryoprecipitate was the best way of stopping Hemophilia bleeds ever seen. The greatest breakthrough in Hemophilia treatment, however, was the development of factor concentrates. Clotting factor could be freeze-dried into a powder that is easy to store, carry, and take. With factor concentrates, people with Hemophilia can be treated more quickly than ever before. Factor concentrates have made it possible for people to treat their bleeds at home or at work, so they can lead more productive lives.

The first factor concentrates were all made from human blood. The newest forms are not made from blood but are manufactured using recombinant technology produced in human or mammalian cell lines. Both plasma-based (from blood) factor concentrates and recombinant factor concentrates are explained in Treatment and Care Options chapter.