The Disease That May Change the Meaning of Christmas

Christmas is associated with happiness, warmth and family time by most people. However, there are some for which the word has a very different, actually even opposite, connotation. These people suffer from what is called Christmas disease.

In spite of its name, Christmas disease — which is also called Factor IX Hemophilia or Hemophilia B – is actually not related to the holiday season at all. In fact, this is a rare genetic disease related to blood circulation, and it was named after the first known patient, Stephen Christmas.

Christmas disease is passed through the X chromosome. The daughters of a father who has the disease are certain to be carriers, and their sons will likely develop the disease.hemophilia Women are usually only carriers because they have two of the X chromosome, which means one will compensate for the other. Still, the daughter of a carrier mother has a 50% chance of being a carrier herself or developing the condition.

While it isn’t always detected this early, hemophilia B is a condition patients are born with. It is estimated that two thirds of the cases are inherited, but the condition can also result from a genetic mutation. Genetic testing can be done to ascertain whether a woman is a carrier of the gene or not.

Christmas disease is characterized by the scarcity or the factor IX, hence its name. This means the patient’s blood doesn’t clot properly, which in turn may cause spontaneous bleeding. The symptoms are more severe when the person lacks the factor IX altogether, and then the bleeding can turn fatal if left untreated.

Events that are usually associated with the diagnosis of Christmas disease include prolonged bleeding after a surgical intervention, prolonged bruising on the body for no apparent reason, unexplained nosebleeds, blood in the urine and feces, and finally internal bleeding that pools in the skull or joints.

Hemophilia B is incurable but manageable, for the most part. Preventive treatment includes regular Factor IX injections which help control the bleeding, as well as preventive blood transfusions which are used to counteract the predictable blood loss in the more severe cases. The factor IX injections can be synthetic or obtained from real blood, though the former is preferred for safety reasons.

In milder cases, preventive measures may not be necessary, and doctors will only prescribe desmopressin, a medicine used to stop the bleeding from smaller wounds. Larger and internal wounds will, however, still need to be treated by a medical professional.

It is true that hemophilia B is quite a scary disease, but most patients live on to celebrate plenty of Christmases, if given the right treatment.