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HEMOPHILIA.ORG > BLEEDING DISORDERS INFO CENTER > HISTORY

What is a Bleeding Disorder? | History |

History
Bleeding disorders have been recognized all the way back to ancient times. Though not named, they were referenced extensively. In the Talmud, a collection of Jewish Rabbinical writings from the 2nd century AD, it was written that male babies did not have to be circumcised if two brothers had already died from the procedure. A 12th century Arab physician named Albucasis also wrote about a family in which males died of excessive bleeding from minor injuries. Bleeding disorders like hemophilia have been recognized for hundreds of years to "run in" families.

In the U.S., the transmission of hemophilia from mothers to sons was first described in the early 1800s. In 1803, a Philadelphia physician named Dr. John Conrad Otto wrote an account of "a hemorrhagic disposition existing in certain families." He recognized that a particular bleeding condition was hereditary and affected males. He traced the disease back through three generations to a woman who had settled near Plymouth, New Hampshire, in 1720. The word "Hemophilia" first appeared in a description of a bleeding disorder condition at the University of Zurich in 1828.

A Royal Disease
Hemophilia has often been called the "Royal Disease." This is because Queen Victoria, Queen of England from 1837 to 1901, was a carrier. She passed the disease on to several royal families. Her eighth child, Leopold, had hemophilia and suffered from frequent hemorrhages, which were reported in the British Medical Journal in 1868. Leopold died of a brain hemorrhage at the age of 31, but not before he had children. His daughter, Alice, was a carrier and her son, Viscount Trematon, also died of a brain hemorrhage in 1928.



Nicholas and Alexandra

Hemophilia played an important role in the Russian Royal family, as well. Two of Queen Victoria's daughters, Alice and Beatrice, were carriers of hemophilia. They passed the disease on to the Spanish, German and Russian royal families. Alexandra, Queen Victoria's granddaughter, married Nicholas, the Tsar of Russia in the early 1900's. Alexandra was a carrier of hemophilia. Her first son, Alexei, was a hemophiliac. Nicholas and Alexandra were pre-occupied by the health problems of their son at a time when Russia was in turmoil. A monk, Rasputin, gained great influence in the Russian court, partly because he was the only one able to help the young Tsarevich Alexei. He used hypnosis to relieve Alexei's pain. The use of hypnosis not only relieved pain, but may have also helped slow or stop the boy's hemorrhages. The illness of the heir to the Tsar's throne, the strain it placed on the Royal family, and the power wielded by the mad monk Rasputin were all factors leading to the Russian Revolution of 1917. In 1916, the 45-year old faith-healer Rasputin was killed at Petrograd at the hands of a group of noblemen bent on ridding Russia of the monk's corrupting influence on Nicholas II and Alexandra.

Finding the Cause

In the 20th century doctors looked for the cause of excessive bleeding. Until then, they had believed that the blood vessels of hemophiliacs were simply more fragile.

1925
Although it is probably the most common hereditary bleeding disorder (affecting approximately 1% to 2% of the population), von Willebrand disease was not recognized until 1925.

1930s
Doctors looked at defective platelets as the likely cause of bleeding disorders and hemophilia. Then 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. They called it "anti-hemophilic globulin."

1944
Pavlosky, a doctor from Buenos Aires, Argentina, did a lab test which showed that blood from one hemophilic patient could correct the clotting problem in a second and vice-versa. He had stumbled upon two persons with hemophilia 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.

Identifying Clotting Factors
1960s
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, hemophilia and other bleeding problems 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. The most common causes of death were bleeding in vital organs, especially the brain, and bleeding after minor surgery or after an injury.

Those who survived were usually crippled by the long-term effects of repeated hemorrhages into the joints. The pressure of massive bleeding into joints and muscles made hemophilia one of the most painful diseases known to medicine.

Then, in the 1960s, cryoprecipitate was discovered by Dr. Judith Pool. Cryoprecipitate is the factor-rich component of blood, containing concentrated factor VIII. Dr. Pool found that the sludge on top of thawing plasma was rich in factor VIII. For the first time, enough factor VIII clotting factor could be infused to control serious bleeding. Even surgery became possible. This medical breakthrough ended the need for high-volume whole plasma transfusions for persons with hemophilia.

1970s

Then, later in the 1960s and early 1970s, concentrates containing factor VIII and IX began to be available. These freeze-dried powdered concentrates could be kept at home and used as needed. They revolutionized hemophilia care. Persons with hemophilia were now independent of hospitals. They could travel, hold steady jobs and hope to lead normal lives. Tragically, these same blood products carried blood-borne viruses like hepatitis C and HIV. Many persons with hemophilia were infected.

1990s

In the 1990s, modern treatment, using safer factor concentrates, has again improved the outlook. Most children born with hemophilia today can look forward to long, healthy, active and productive lives. Recent progress includes:
• New clotting factor products and drugs such as desmopressin acetate (also known as DDAVP, used to treat mild-to-moderate hemophilia A and von Willebrand disease)
• New, synthetic (not derived from plasma) clotting products that take advantage of recombinant technologies
• Better screening methods to detect and remove viruses and other agents from factor concentrates and blood products
• Improved surgical options
• Advanced genetic testing methods
• Medically supervised home-infusion therapy
• Prophylactic treatment

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