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What is a Bleeding Disorder?
| History |
Bleeding disorders have been recognized all the way back to ancient times.
Though not named, they were referenced extensively. In the Talmud, a
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
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
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.
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.
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
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
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
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
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.
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.
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
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
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