Electronic Health Records (EHR) -- Term Paper

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The most common treatment for hemophilia is replacement therapy, where concentrates of the clotting factors (factor VIII for hemophilia A or factor IX for hemophilia B) are administered to the patient. Clotting factors can be obtained from treated human blood sources or recombinant sources. (NHLBI, n.d.) Recombinant factors "are made by inserting the DNA encoding the human protein into mammalian cells grown in culture. They are purified and processed and are non-plasma derived products." (Hemophilia-Information, n.d.) Many patients take replacement therapy on a prophylactic (preventive) basis daily, others apply treatment only in the event of a bleeding event/injury (NHLBI, n.d.). Other treatment options, typically used for specific situations such as prior to dental surgery or to treat active bleeding, include:

Desmopressin (DDAVP), which is a man-made hormone that stimulates the release of stored factor VIII and vonWillebrand factor, while also increasing the level of these proteins in the blood stream, for patients who have mild to moderate hemophilia A. DDAVP is typically administered via injection or nasal spray. (NHLBI, n.d.)

Antifibrinolytic medicines (including tranexamic acid and aminocaproic acid), which may be used in combination with replacement therapy.

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These agents help keep blood clots from breaking down once formed, and are usually administered in pill form (NHLBI, n.d.)

Currently, there are treatments, as described above. However, scientists are pursuing gene therapy approaches, which in effect would provide a cure. (Mannucci, 2003). For example, this type of treatment is being pursued by researchers in the U.S. And the United Kingdom together with Netherlands-based Amsterdam Molecular Therapeutics, a company that specializes in gene disorders. The study uses as its key mechanism a "vector-gene combination" that was first developed at St. Jude Children's Research Hospital in Memphis. Reportedly, "[t]he gene therapy used in the trial employs adeno-associated viruses (AAV), small viruses that do not cause disease and produce mild immune responses, as vectors (delivery vehicles) to introduce a functioning factor IX (FIX) gene into the liver cells of subjects with hemophilia B. The goal of the trial is to trigger viable, long-term FIX protein production through a single administration of the therapy. This could reduce or even eliminate bleeding episodes in hemophilia B. patients." (Medical News Today)......

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