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Throwback Thursday: Gene Therapy Treated Disease – Hemophilia B

Throwback Thursday, where, essentially I post old writing samples, essays and short stories that I dig up from my pile of hoarded papers and school assignments or from the depths of my computer. So everyone can see how my writing has changed/improved over the years.


Hemophilia is a genetic, X-linked disorder that causes a lack of clotting factors in the blood, which leads to prolonged bleeding, and can lead to serious health issues with internal bleeding. Surgery can be necessary, and in some cases is common when bleeds in joints occur, and it can be life threatening. Hemophilia A and B, because they are X-linked are more prevalent in males. Hemophilia C though, is autosomal, and is roughly equally prevalent in men and women.

Normal treatments for hemophilia include clotting factor injections, physical therapy, and vaccinations. Recently (2012), breakthroughs have come through in using gene therapy to treat hemophilia B patients. In the study done by American and British researchers at the University College London (UCL), the gene for clotting factor IX (FIX) was inserted using an Adeno-Associated Virus (AAV) as a vector. This is the ideal vector for treating hemophilia because AAV effects liver cells, which is where the clotting factors are produced, and it does not tend to illicit immune responses in patients. By inserting the non-defective gene for FIX via the vector, patients could, if the gene therapy is successful, produce their own clotting factor, and be effectively cured of their hemophilia, which was unheard of before.

The gene therapy is still being researched, but seems promising. Of the six patients in the study, four ceased to need injections of clotting factors, and 2 needed greatly reduced amounts of injections with less frequency. The main worries of the drug therapy is the long-term effects of tampering with the human genome and, with this specific case, the longevity of the treatment. Liver cells have a short life span and regenerate slowly, which will affect the long-term viability of the treatment.

Despite this, gene therapy is a promising treatment to hemophilia, among other diseases, and as research continues and techniques improve, it may prove to be a real cure.

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