Christmas disease is a rare blood disorder with a genetic origin. The condition affects male individuals while females act as carriers of the disease. The condition is also referred to as Haemophilia B disorder.
This blood disorder is characterized by mutation of a gene on the X chromosome. As a result of the mutation, the blood fails to clot normally, which in turn results in extensive blood loss which can occasionally result in death.
Family history plays a crucial role in the transmission and since the gene is recessive, it only affects male patients.
Symptoms Of Christmas Disease
The most characteristic symptom of Christmas disease is that an individual suffering from the disorder tends to bleed more profusely and for a longer duration of time compared to others. Further, these patients have an inherent tendency to bruise easily without any apparent cause. Joint pain is a common symptom associated with the condition.
Diagnosis of a patient with Christmas disease requires blood investigations which show mutation in the gene on the X chromosome. It is difficult to diagnose the condition, without the blood testing.
Treatment For Hemophilia B
The treatment regimen for Christmas disease is extensive and very expensive.Unfortunately there are no medications are currently available to treat the disease. The treatment comprises of plasma and blood transfusion, which is required for the remainder of their lives.
Presently, there is no cure to the condition, though a patient suffering from Christmas disease can have a normal life as long, with the constant aid of blood transfusion.