Genomics, Biotech, and Emerging Medical Technologies
Hemophilia is an inherited disorder caused by a defect in one of the X chromosomes resulting in excessive bleeding and easy bruising. Bleeding can be external or internal and bleeding into the joints is likely to cause long term damage if not treated quickly. In addition, bleeding in the brain is an even more serious problem for those with severe hemophilia as it can be caused by a simple head bump. While females are typically carriers of the genetic defect, the majority of cases are seen in males and it’s believed that 1 in 5,000 males are born with hemophilia every year. Hemophilia A is more common than B and each type require different treatments. Hemophilia is diagnosed through blood tests to determine the severity of the disease and discover which clotting factor is low or missing. Replacement therapy remains the mainstay of treatment which contain concentrates of clotting factor and is can be synthetic or made with human blood. Early treatment and prophylactic therapy is critical to effectively managing the disease and improving patient outcomes by preventing joint damage. Patient education is also critical as infusions can be taught to patients and done at home, alleviating unnecessary doctor appointments and lowering the cost of treatment. Demand therapy is less expensive however there is a risk that the delay in treatment can cause damage to joints and muscles. Another possibility for replacement therapy is having a vein access device implanted, which makes access easier. However, these devices can get infected and need proper care. Thankfully new and emerging treatments are becoming available and include longer lasting agents that cut down the number of infusions needed per year. These options have the potential to increase patient compliance while decreasing the possibility of inhibitors forming.
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