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Hemophilia Diagnosisand Treatment History

Hemophiliawas first detected by the Jewish people, who created circumcision laws thatimply the discovery of the condition as well as the fact it is passed on by themother. The earliest account of hemophilia was recorded by Dr. John ConradOtto, in 1803, who called it a 'genetic hemorrhagic disposition', and noted itshereditary nature and commonness in women. The actual name 'hemophilia' wasfirst recorded at the University of Zurich in 1828. Harvard doctors Patek andTaylor discovered the anti-hemophilic globulin in 1937, and a Buenos Airesdoctor, Pavlosky, is credited with discovering hemophilia A and hemophilia B astriggers to more than one form of hemophilia.

Hemophiliawas known as the royal disease due to Queen Victoria being a carrier of it, andpassing the gene to a number of nobles such as Alexei, son of the Russian TsarNikolai.

During the1900s, blood transfusion became a possibility, after a sufficient amount ofblood was lost, but blood storage was not possible at that time. The usual lifeexpectancy of hemophiliacs at the time was 13 years. Plasma was discovered inthe 1950s, but it did not contain enough of the needed factor. This wasremedied in 1965 with the advent of ’’Cryo’’, a Cryoprecipitate that settled inthe 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 inactivatedfactor products become available in 1985, and the first non plasma derivedfactor becomes available in 1992, by using recombinant DNA technology. Finally,in 1995, ’’Prophy’’ becomes the U.S. standard way of treatment. It works bytaking factor on a regular basis to prevent bleeding, instead of waiting forthe bleeding to occur.

Causes andTreatment of Hemophilia

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

HemophiliaA is caused by the absence of the functional clotting Factor VIII in 90% ofhemophilia cases. Hemophilia B is the result of the lack of Factor IX. HemophiliaC is autosomal in nature, not X-linked, and is rare. Frequent transfusionscarry the risk of exposing the hemophiliac to viruses such as HIV andhepatitis. Any families with medical history hemophilia are advised to receivegenetic counseling, and prenatal DNA testing can help detect the deficiency intime.

While thereis no cure for hemophilia, it can be controlled with blood infusions and factorisolation within the blood serum. An anti-hemophilic, genetically engineeredfactor called Xyntha is used for the treatment, and though it is expensive it isvery effective. There is also the option of Prophylaxis, a procedure thatinvolves the infusion of the deficient clotting factor periodically. Joint strengtheningand muscle flexibility exercises can also help significantly.

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