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03.06.2014
CUTTING EDGE: Research fellow Bifeng Pan, left, research assistant Erin Child and instructor Yukako Asai are part of the team that has been working on a treatment that restores genetic hearing loss.
Hemophilia B, or what some call Christmas disease, is a rare genetic blood disorders that some experts say could be treated by a new gene therapy. If someone has Christmas disease, his or her body produces little or no blood-clotting factor IX. Although most people refer to it as Christmas disease and hemophilia, there are others who know it as the royal disease.
According to a group of researchers involved in an ongoing study through the University of North Carolina School of Medicine, a new type of gene therapy for the Christmas disease blood disorder could be safe and effective for humans. At this point, the researcher’s work shows that a reprogrammed retrovirus could successfully transfer new factor IX genes into animals with hemophilia B to decrease spontaneous bleeding. The idea behind the gene therapy is that doctors would give patients a one-time dose of new clotting genes instead of a lifetime of injections. In clinical studies, about 40 percent of participants screened for a different viral vector, known as “adeno viral vector” have antibodies that don’t allow them to enter trials for hemophilia gene therapy. As far as medical science can tell, hemophilia B or Christmas disease is caused by changes in factor IX gene. Medical scientists know that the factor IX gene has instructions within it for creating a special protein.
If you are a female with a family history of the Christmas disease, you can get genetic testing. It is important to note that even if a daughter were to inherit the hemophilia gene from her mother, it does not mean that she is destined to get the blood disorder.
Unfortunately, there is no cure for the condition we know as Christmas disease and hemophilia B.
Christmas disease may sound scary, especially if you are hearing about it for the first time during the holiday season, but life as a hemophiliac can be much like the life of any healthy person; it just involves taking a few extra precautions.
For some time now, doctors who treat people with hemophilia have noticed that adults with severe cases of the blood clotting disorder experience joint diseases.


Thalassemia and sickle cell disease are distinct conditions, but both are blood disorders that can lead to increased anemia and pain.
On any matter relating to your health or well-being, please check with an appropriate health professional. An exciting new study published in Science Translational Medicine has successfully used a gene therapy technique to regenerate partial hearing in deaf mice. An electron micrograph of some cochlear hair cells.The hair cells are ready and able to get the new healthy proteins into place on their own outer membranes, since of course they were supposed to be making and placing the healthy proteins all along.
I can see it now… men across the planet protest as their wives sign them up for treatment.
Robert Green, a geneticist at Brigham and Women’s Hospital who was not involved in the study. It was in fact named after the person who was first diagnosed with the condition back in 1952, Stephen Christmas. As history indicates, one of Queen Victoria’s sons fell down some stairs back in 1884, and while he suffered only a few bumps and bruises, they learned that Prince Leopold had hemophilia – his blood would not clot. It’s a therapy that could not only provide a solution to a life-long condition, but experts say it has the potential to save money. This gene is situated on the X chromosome, which is why we have been able to say there is a hereditary link. If someone has severe hemophilia B Christmas disease, they just may need preventative blood transfusions to avoid problems associated with prolonged bleeding. For instance, people with hemophilia B who do not feel well should not be taking any product that contains aspirin, ibuprofen or naproxen sodium.
Exercise is important and encouraged, so discuss what sports and activities are best with a doctor first. No statement herein is to be construed as a diagnosis, treatment, preventative, or cure for any disease, disorder or abnormal physical state.
Today we know it as the second most common form of hemophilia, following behind hemophilia A.


Another advantage is that the new gene therapy uses what is referred to as “lentiviral vectors.” Most people do not have antibodies that reject these vectors.
Still, in about 30 percent of new hemophilia B cases, this change in the gene takes place without there being a family history. The symptoms of bleeding that are associated with hemophilia B take place because of this deficiency. In a mild case, Christmas disease symptoms may include bruising and bleeding after surgery, dental procedures or an injury. A woman is always a carrier if she is the biological daughter of a man with hemophilia, a biological mother of more than one son with hemophilia, or is the biological mother of one son with the disease and has at least one other blood relative with hemophilia. A daughter who inherits an X chromosome with hemophilia is called a carrier, but it is extremely rare for females to get the disease. Medications like this make all of us bleed for a longer period of time, so you can imagine how bad it could be for someone with this blood disorder to take those drugs. The statements herein have not been evaluated by the Foods and Drugs Administration or Health Canada. A simple defect in the gene for transmembrane channel-like protein 1 (TMC1) prevents the tiny, crucial hairs of the cochlea from being able to create electrical impulses at the appropriate time, stimulating the auditory cortex of the brain and causing the perception of sound. Those with moderate hemophilia B may have occasional episodes of spontaneous bleeding from deep tissues, including joints and muscles. That’s why quick, cheap genome sequencing and the personalized medicine it will allow will be so crucial to getting the most out of these sorts of techniques.
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