As Christmas Day quickly approaches, one can often forget to keep their health in check. Christmas Disease, or hemophilia B, though not associated with the festivities, is an important illness to keep track of. It originated from Stephen Christmas, a five year old Canadian who was the first patient to be diagnosed with the condition in 1952. This disorder is genetic and is found on the X chromosome as a recessive trait, and is caused by the lack of the blood clotting protein factor IX. Thus, the disease is found more in men due to the fact that men have only one X chromosome, while women have two. Without the blood clotting ability, injuries to patients result in excessive bleeding, which can be fatal. In Stephen Christmas’ time, there was only one disease associated with hemophilia, which involved the lacking of protein factor VIII, which is known as hemophilia A. However, Christmas was found to have enough of protein factor VIII, and instead had issues with protein factor IX, prompting the discovery of hemophilia B, or the aptly named Christmas Disease.
In young male patients, symptoms can be seen soon after they are born. Excessive bleeding characterizes the disorders, and common injuries can be life threatening. Additionally, blood can reach the joints or appear in feces. Internal bleeding, nosebleeds, and numerous bruises can also indicate hemophilia B. These signs can happen after surgery or without any reason, as Christmas Disease can result in random occurrences of bleeding.
Several methods exist in order to determine whether someone has Christmas Disease. Partial thromboplastin time, or PTT, measures the time it takes for blood to clot. It is associated with the coagulation, or clotting, system functions. Using a blood sample, the PTT will help to examine the abundance of certain protein factors in a patient’s blood. Typically, it should take 25 to 35 seconds for the blood to clot. However, if it takes longer, it could be a sign that the patient has Christmas Disease, or other conditions such as malabsorption, low levels of Vitamin K, or liver disease. Additionally, another form of technology used to see whether someone suffers from hemophilia B is the Factor IX Assay. This examination specifically looks at protein factor IX using a blood sample. Typically, a healthy patient will have 50% to 200% for their protein factor IX. If it is below, it could be a sign that the patient has Christmas Disease.
In order to help the treat patients with Christmas Disease, they can be given doses of protein factor IX concentrates. The amount that is administered will be determined by the characteristics of their condition. Additionally, because patients with hemophilia B will often get blood material, they should take the vaccine for hepatitis B and reduce the likelihood that they contract another disease. For some patients, their immune system generates antibodies for protein factor IX. They attack the protein factor and are known as inhibitors since they prevent them from carrying out their functions. In order to remedy this, a manmade clotting factor known as Vlla is administered.
Christmas Disease, or hemophilia B, impacts many people. If you celebrate Christmas, remember to think about those who have it all year long.
Sources:
https://my.clevelandclinic.org/health/diseases/23912-hemophilia-b
https://medlineplus.gov/ency/article/000539.htm