What is Christmas Disease or Hemophilia B: Causes, Symptoms, Treatment, Diagnosis

Christmas Disease which is also known by the name of Hemophilia B is an extremely rare genetic pathological disorder characterized with abnormality in blood clotting. Christmas Disease is named after Stephen Christmas, the first patient described with this disease. Individuals with Christmas Disease or Hemophilia B produce little to no factor IX which is essential for clotting of blood. This results in the individual having spontaneous bleeding or having profuse bleeding even with little cuts or abrasions.
The severity of the condition depends on how much factor IX the body is able to produce meaning that less the level of factor IX the more severe will be the symptoms of it. If Christmas Disease or Hemophilia B is not treated on time then it may result in a fatality. A child may be born with this condition, but it may remain undiagnosed for a few years after birth.

In majority of the cases, Christmas Disease is an inherited condition while in some cases it may be caused due to de novo mutations in the defective gene responsible for causing it. It should be noted that males are the only ones that develop it.

The gene responsible for Christmas Disease or Hemophilia B is the factor IX gene and is located in the X chromosome. Females have two X chromosomes while males have one X and one Y chromosome. Once a male inherits the defective gene in his X chromosome, then in all likelihood he will go on to develop Christmas Disease or Hemophilia B. For females, if they inherit the faulty gene then they will be carriers of this condition and may pass on this condition to their off springs and if the children are males, then they will go on to develop Christmas Disease.

The primary presenting feature for Christmas Disease or Hemophilia B is abnormal bleeding which may be spontaneous. There will be profuse bleeding even with small cuts or bruises. Even minute surgery like a circumcision may lead to profuse bleeding. Even tooth extractions can cause profuse bleeding in boys with Christmas Disease or Hemophilia B. An individual with this disease will tend to have frequent nosebleeds.

Hematuria and bloody stools are also one of the symptoms of it. An individual with this disease may also have internal bleeding, which may pool up in the joints and cause severe pain and decreased range of motion of the joints. There may also be excessive bleeding within the skull after birth in a child with it.

Once the child presents with symptoms mentioned above then a diagnosis of Christmas Disease or Hemophilia B is suspected. In order to confirm the diagnosis, the physician may perform a series of tests to include a factor IX test, which will confirm that there is very little to no factor IX present in the individual virtually confirming the diagnosis of it.

Additionally a PTT may be performed to check how much time it takes for the patient to clot blood which will be very high in cases of Hemophilia B. A fibrinogen test may also be performed to check the ability of the individual to form clots. The results of all of these tests will confirm the diagnosis of it.

As of now, there is no cure for Christmas Disease or Hemophilia B and treatment is purely supportive and directed at reducing the symptoms. An individual with it will need regular monitoring for symptoms. A factor IX injection may be given to increase the level of factor IX in the body so that the body is able to clot blood early. This factor IX can be derived from human blood or can be made artificially in the laboratory. The artificial form of factor IX is the most preferred form of treatment as the risks of contracting other conditions like HIV and hepatitis is minimal.

If the patient incurs any wound then the wound needs to be treated with utmost care. For mild cases of Hemophilia B, medication like desmopressin acetate can be given to allow the blood to clot.

For severe cases of Christmas Disease or Hemophilia B, inpatient treatment may be required for controlling bleeding and treat the wound. In an individual has a known diagnosis of it, then it is imperative that he takes precautions to avoid any bleeding episodes.

Additionally, the individual may have to undergo preventive blood transfusions for prevention of excessive bleeding. This is especially done for children with it. Other than this, treatment is only supportive and symptomatic for children and individuals with a known diagnosis of Christmas Disease or Hemophilia B.