Christmas Disease

Christmas disease is a rare genetic disorder known as Haemophilus B or Factor IX Haemophilia in which blood does not clot properly.

People with this condition lack the clotting factor IX and they experience spontaneous and bleeding. Their bodies produce little or no blood-clotting factor IX, which leads to prolonged or spontaneous bleeding. The less produced, the worse the condition.

In most of the cases the condition is inherited and in a few, it is due to gene mutations that occur during foetal development for unknown reasons.

The disease is named after Stephens Christmas who was first diagnosed of the condition, and thus has nothing to do with the birth of Christ.


It is very common in males. Females are usually only carriers because they have two X chromosomes. The X and Y chromosomes are called sex chromosomes. The gene for hemophilia is carried on the X chromosome.

If they inherit the faulty gene on one X chromosome, the other X chromosome produces sufficient factor IX for blood clotting. A woman can pass the gene on to her children. Hemophilia can occur in daughters, but is rare.


There will be a suspicion of Christmas if any of the following occurs:

  • prolonged bleeding during circumcision
  • prolonged bleeding after surgical procedures or tooth extractions
  • prolonged bleeding from cuts or other wounds
  • unexplained, excessive bruising
  • unexplained, excessive and prolonged nosebleeds
  • unexplained blood in the urine or feces caused by internal bleeding in the
  • gastrointestinal or urinary tract
  • internal bleeding that pools in the joints, causing pain and swelling

    christmas disease

Confirmation can be done by:

  1. genetic testing
  2. factor IX test to determine how much of the clotting factor is present in your blood
  3. activated partial thromboplastin time (APTT)
  4. test to detect how fast your blood clots
  5. prothrombin time test, another test to detect how quickly your blood clots


Christmas disease has no cure.The standard treatment is infusion of factor IX concentrates to replace the defective clotting factor.


The outcome is usually good with treatment. Most people with hemophilia are able to lead relatively normal lives. However a small percentage of people develop inhibitors of factor IX, and may die from blood loss.

Patrick Fynn

Patrick Fynn is the moderator and author of the Medical Practitioners forum.

Leave a Reply

Your email address will not be published. Required fields are marked *