Who Discovered Hemophilia?
The earliest account on the condition was recorded by Dr. John Conrad Otto, in 1803. The physician recorded a 'genetic hemorrhagic disposition', establishing that the disorder was hereditary and more evident in males than in females. His records reveal a 1720 hemophilia case in Plymouth. The term 'hemophilia' was first coined at the University of Zurich in 1828. It was not until 1937 that the Harvard doctors Patek and Taylor discovered the anti-hemophilic globulin. The study of hemophilia A and hemophilia B as triggers to more than one form of hemophilia is attributed to a Buenos Aires doctor, Pavlosky.
Hemophilia Causes
Hemophilia A is caused due to the absence of the functional clotting Factor VIII. This deficiency is observed in 90% hemophilia cases. Hemophilia B is the result of the lack of Factor IX, while Hemophilia C is autosomal in nature, not X-linked. The condition is quite rare and can worsen due to blood contamination. Frequent transfusions expose the hemophilia patient to viruses such as HIV and hepatitis. Genetic counseling and testing is very important for families that have a medical history of hemophilia. Prenatal DNA testing helps detect the deficiency in time.
Treatment
There is no cure for hemophilia. Nevertheless, the condition can be controlled with:
- Blood infusions to correct the deficient clotting factor
- Factor isolation within the blood serum
Hemophilia Facts
Hemophiliacs lack the protein chromosome that is essential for normal blood clotting. This clotting factor works along with the platelets, cells in the bone marrow, to help in the clotting process.
Hemophilia staging largely depends on the deficiency of the clotting factor in the blood. The condition can also be acquired during a lifetime, with the formation of antibodies averse to the clotting factors in the bloodstream.
The extent of bleeding in hemophilia depends on the type and severity. Bleeding can be obvious or external, or hidden or internal. The part of the body injured swells as the bleeding continues, till movement is temporarily lost.
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