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History
History of Hemophilia
What is Hemophilia?
Hemophilia is an inherited bleeding disorder in which the ability of the blood to clot is severely reduced, causing the sufferer to bleed even with a slight injury. Blood contains many proteins called clotting factors which are responsible to control bleeding. A person with hemophilia produces lower amounts of either Factor VIII or Factor IX. Where Factor VIII deficiency is called Hemophilia A while Factor IX deficiency is called Hemophilia B. These are the 2 most common subtypes of hemophilia. The severity of this disease is determined by the number of factors in the blood a person has. The lower the number of factors, the more severe the disease is.
Classification
Though it can be classified on either clinical bleeding symptoms or plasma pro-coagulant levels, the latter criteria are mostly used. According to the plasma coagulation levels the classification is as follows.
- Mild Hemophilia –
Mild Hemophilia has 5 to 40% of normal clotting factors. In this case, a person might never have bleeding problems or bleed only after having teeth removed, surgery, or a bad injury.
- Moderate Hemophilia –
People with moderate hemophilia have 1 to 5% of normal clotting factors. They might have bleeding problems usually after surgery, bad injury, or accident, and can also bleed for no obvious reason.
- Severe Hemophilia –
In severe hemophilia, there is less than 1% of normal blood clotting factor. People may often have bleeding in joints, muscles, soft tissues as well as after surgery, dental work, or even slight injuries.
Historical background
Hemophilia, one of the oldest described genetic diseases, was first mentioned hundreds of years ago in the second century, when a collection of Jewish rabbinical writings on law and traditions stated that baby boys did not need to be circumcised if two of their brothers had previously died from the procedure. The record of hemorrhage is also found in the New Testament of the Bible that mentions a woman who had hemorrhaged for 12 years, before touching the hem of Jesus’ garment, when she was healed. Even Arabian physician, Abulcasis described families whose male relatives died due to excessive bleeding after a trauma in the 10th century.
In the year 1803, a paper about the familial bleeding disorder that only affected the male members was published by Dr. John Conrad Otto. His research helped him to trace the disease back to a female ancestor who lived in New Hampshire, in 1720.
Then in 1828, a student at the University of Zurich named Friedrich Hopff and his professor Dr. Schonlein, coined the term “hemorrhaphilia” for this condition which was later shortened to “hemophilia”.
Though being around the world since ancient times, Hemophilia was first introduced to the world during the reign of Queen Victoria of England as “The Royal Disease” in 1928. This is because Queen Victoria was the carrier of the disease and it was passed to her son Leopold. This disease was then passed to other European royal bloodlines as Leopold passed the carrier gene to his children who eventually married into royal families of Russia, Spain, and Germany.
Doctors learned that the clotting problems could be corrected by adding platelet-free plasma called the anti-hemophilic globulin in the year 1937.
In 1947, hemophilia A and hemophilia B were recognized as two distinct diseases by Dr. Pavlosky after he identified two patients each one deficient with different proteins.
In the late 1920s, hospital-based plasma transfusions were common treatments for hemophiliacs until the 1950s. Then whole blood or fresh plasma were used to treat hemophilia from the 1950s to 1960s. But they lacked factor VIII or factor IX proteins to stop serious bleeding.
It was discovered that the precipitate left from thawing plasma was high in factor VIII in the year 1965 by Dr. Judith Graham Pool. By the 1970s freeze-dried powdered concentrates containing factor VIII and IX were readily available. This allowed the hemophiliacs to self-administer the factor in their own homes.
Many hemophiliacs died in the 1980s due to the rise of HIV and AIDS by becoming positive through contaminated blood products. In the 1990s synthetic factors became available and recombinant factors VIII and IX were approved by the FDA. Even prophylaxis started being used as a preventive treatment for children in the same decade.
Before the twentieth century, as much was not understood about hemophilia, the life of sufferers was filled with unpredictable pain as treatment was extremely rare. Most people with severe hemophilia or even mild and moderate hemophilia died in early adulthood. This was majorly due to bleeding in vital organs especially the brain. Those who survived became crippled due to the long-term effects of hemorrhages to the joint. This made hemophilia one of the most painful diseases in medical history.
Causes
The coagulation cascade is a process in our body that stops bleeding where blood platelets coagulate together at the site of the wound to form a clot. Then a more permanent plug in the wound is created by the body’s clotting factors. A low level of these clotting factors causes Hemophilia.
- Genetic Inheritance – Hemophilia is inherited genetically, it is caused by a defect in the gene that is responsible to determine how the body makes factors VIII, IX, or XI. As these genes are located on the X chromosome, it makes hemophilia an X-linked recessive disease.
- With no family history – Some studies showed that there was no known family history of the condition. There are some cases where the boy is born with hemophilia without any Family history of the condition. Such cases may occur due to a gene change developed spontaneously in the boy’s mother, grandmother, or great-grandmother.
