Towards Gene Therapy for Haemophilia B
Haemophilia B is an X-linked bleeding disorder affecting about 1 in 30,000 males. It is caused by mutations in the gene for blood clotting factor IX, which results in reduced amounts of functional factor IX in plasma. This leads to failure of the blood clotting cascade, which results in life-threatening bleeding episodes. Current treatment of haemophiliacs involves the intravenous injection of factor IX which has been purified from pooled human donor plasma. Although the haemostatic effectiveness of this treatment is well established and there is now a minimal risk of HIV infection, there is still the possibility that hepatitis B and C may be transmitted. Furthermore, treatment is given in response to bleeding episodes and not prophylactically. Gene therapy for haemophilia B would provide the patient with a permanent supply of factor IX, so that bleeds would be prevented rather than merely treated. Also frequent injections would no longer be necessary, thus improving the life-style of patients.
KeywordsGene Therapy Human Factor Thoracic Duct Blood Clotting Factor Blood Clotting Cascade
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