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Hemophilia Diagnosis and Treatment History

Hemophilia was first detected by the Jewish people, who created circumcision laws that imply the discovery of the condition as well as the fact it is passed on by the mother. The earliest account of hemophilia was recorded by Dr. John Conrad Otto, in 1803, who called it a 'genetic hemorrhagic disposition', and noted its hereditary nature and commonness in women. The actual name 'hemophilia' was first recorded at the University of Zurich in 1828. Harvard doctors Patek and Taylor discovered the anti-hemophilic globulin in 1937, and a Buenos Aires doctor, Pavlosky, is credited with discovering hemophilia A and hemophilia B as triggers to more than one form of hemophilia.

Hemophilia was known as the royal disease due to Queen Victoria being a carrier of it, and passing the gene to a number of nobles such as Alexei, son of the Russian Tsar Nikolai.

During the 1900s, blood transfusion became a possibility, after a sufficient amount of blood was lost, but blood storage was not possible at that time. The usual life expectancy of hemophiliacs at the time was 13 years. Plasma was discovered in the 1950s, but it did not contain enough of the needed factor. This was remedied in 1965 with the advent of ’’Cryo’’, a Cryoprecipitate that settled in the bottom of a plasma bag and was consequently frozen and infused. In the 70’s Factor concentrates became available, but caused the infection of more than 80% of the people with hemophilia in the U.S with HIV in the 80’s. Viral inactivated factor products become available in 1985, and the first non plasma derived factor becomes available in 1992, by using recombinant DNA technology. Finally, in 1995, ’’Prophy’’ becomes the U.S. standard way of treatment. It works by taking factor on a regular basis to prevent bleeding, instead of waiting for the bleeding to occur.

Causes and Treatment of Hemophilia

Hemophilia is caused by a genetic deficiency that significantly lowers the blood plasma coagulation factor that is required for the blood to clot normally, and is usually inherited from the mother. A hemophiliac does not actually bleed more than the average person, but bleeds for a longer time. This causes a person suffering from hemophilia to lose lots of blood from even a minor injury, with bleeding that can last for weeks. Internal bleeding and brain injuries can all prove fatal to hemophiliacs, and can cause debilitation and complications such as hemorrhage, hemarthrosis, menorrhagia and gastrointestinal bleeding. One in every 10.000 male and 1 in 20.000 female people are born hemophiliac. The condition can also be acquired during a person’s lifetime.

Hemophilia A is caused by the absence of the functional clotting Factor VIII in 90% of hemophilia cases. Hemophilia B is the result of the lack of Factor IX. Hemophilia C is autosomal in nature, not X-linked, and is rare. Frequent transfusions carry the risk of exposing the hemophiliac to viruses such as HIV and hepatitis. Any families with medical history hemophilia are advised to receive genetic counseling, and prenatal DNA testing can help detect the deficiency in time.

While there is no cure for hemophilia, it can be controlled with blood infusions and factor isolation within the blood serum. An anti-hemophilic, genetically engineered factor called Xyntha is used for the treatment, and though it is expensive it is very effective. There is also the option of Prophylaxis, a procedure that involves the infusion of the deficient clotting factor periodically. Joint strengthening and muscle flexibility exercises can also help significantly.

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