This has recently been reported for patients with Hemophilia B.  Hemophilia B, also known as Christmas disease, is due to a deficiency of the clotting factor IX (FIX).  The first reported case of Hemophilia B due to a decrease in FIX was in 1952, and was called “Christmas Disease” after the first patient diagnosed was named Stephen Christmas.  Without this clotting factor, the blood does not form clots and results in severe bleeding episodes, especially in the joints and muscles.

Bettert reatment for this disorder began back in the 1960’s where they would inject FIX concentrates into the blood of patients with hemophilia B.  This increased the average age of death of 24 to a median lifespan of 63 years of age.  So with the success of the protein therapy, why try to fix the genes?  With each treatment costing $150,000 to $300,000, a patient needing clotting factors for hemophilia could incur a lifetime cost of $20 million.

So there needs to be a way that a patient can have a more effective treatment option that will cost less.  This new treatment option offers some hope.  Using a new virus for the administration of the gene, patients have seen an increased production of FIX protein for longer periods of time, and were able to stop or decrease the amount of concentrate injections they would need.  With one injection of the virus only costing about $30,000, dramatic cost savings have already been seen.  While this does offer new hope for the treatment of clotting disorders, follow-up with a larger number of patients and for longer periods of time will be needed to fully weigh the benefits and risks of this technique.  Once this has been done, hopefully we will see gene therapy used more in practice and maybe even for more than just clotting disorders.

Ponder, Katherine P.  Merry Christmas for Patients with Hemophilia B. The New England Journal of Medicine 10.1056; December 10, 2011.  Nathwani A.C., Tuddenham E.G.D., Rangarajan S., et al.

For example, when someone has hemophilia (a blood clotting disorder), there is a mutation in a gene that normally tells our cells how to make proteins called clotting factors. The mutation prevents a specific clotting factor from being produced, and as a result, the individual carrying the mutation has the disease and the blood doesn’t clot as it should after an injury. It’s a gene we all have, but if someone has hemophilia, the gene just isn’t working properly.

Another common misunderstanding is that if a disease is genetic, it is always inherited. It is true that many disease-causing mutations are inherited. Sometimes though, the mutations that cause genetic diseases develop over time, after we are born. Many of the mutations associated with the development of cancer, accumulate in our cells as we age, and aren’t inherited. These diseases are genetic, because they are caused by mutations in genes, but they aren’t passed from parent to offspring. Less than 10% of all cancers are inherited!

It’s no wonder that not only children, but adults too, are misinformed. These types of incorrect phrases and misinterpretations are printed all the time in magazine and newspapers. So where do you go for correct information? To learn more about the genetics of cancer, go to: www.insidecancer.org. To learn more about basic laws of inheritance, use DNA From the Beginning (www.dnaftb.org). To learn more about the inheritance of mutations that cause disease, go to: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd, the Online Mendelian Inheritance in Men (OMIM) database.