A rare and serious bleeding disorder carries a name that might evoke festive cheer, but its origins are far more sombre and personal. Known as Christmas Disease, this condition is not related to the holiday season but is instead named after Stephen Christmas, a young Canadian boy diagnosed in 1952.
The History Behind the Name
In the mid-20th century, medical understanding of haemophilia was limited, with only one type recognised. This form, now called Haemophilia A, involves a deficiency in a blood clotting protein known as factor VIII. However, when five-year-old Stephen Christmas was examined, pioneering coagulation researchers Rosemary Biggs and Robert McFarlane made a crucial discovery.
They found that Stephen was missing a different clotting protein altogether: clotting factor IX. This identified a second, distinct form of the disorder. In a lasting tribute, the doctors named this newly identified condition after their young patient, forever linking the name 'Christmas' to medical history.
Understanding Haemophilia B
Both Haemophilia A and B are lifelong, inherited conditions where the blood does not clot properly, leading to prolonged bleeding. The severity can range from mild to severe. The genetic cause is an X-linked recessive trait, meaning the defective gene is located on the X chromosome.
This genetic location explains why males are far more likely to be affected. Males have one X and one Y chromosome, so if the X carries the faulty gene, there is no second X chromosome to compensate. Females, with two X chromosomes, are typically carriers but may experience symptoms if their factor IX levels are low.
It is vital to understand that individuals with haemophilia do not bleed faster than others; they simply bleed for a longer duration. However, this presents significant risks.
Symptoms, Risks, and Modern Treatment
The symptoms of Christmas Disease, or Haemophilia B, can be serious and include:
- Bleeding into joints (causing pain and swelling)
- Frequent and severe nosebleeds
- Blood present in urine or stool
- Excessive bleeding from minor cuts, dental work, or surgery
- In rare cases, spontaneous bleeding without an obvious cause
The Centers for Disease Control (CDC) warns that internal bleeding, particularly in a vital organ like the brain, can lead to long-term complications such as seizures and paralysis, and can even be fatal.
Despite these risks, the prognosis today is positive. With appropriate, modern treatment, individuals diagnosed with Haemophilia B can lead full and healthy lives. Diagnosis is confirmed through blood tests, which also determine the condition's severity.
The NHS states that most cases are severe and require preventative treatment. This typically involves regular injections of a medication called nonacog alfa (BeneFix), which is an engineered version of the missing clotting factor IX. Patients are generally advised to avoid high-impact contact sports to minimise injury risk.
Genetic testing plays a crucial role, both in identifying carriers within families and in prenatal diagnosis. Tests like chorionic villus sampling (CVS), performed between 11 and 14 weeks of pregnancy, can detect the condition in a foetus, though such procedures carry a slight risk of miscarriage.
The story of Christmas Disease is one of medical detective work and a legacy that transcends its misleading name. It highlights the importance of ongoing research, accurate diagnosis, and advanced treatment in managing complex genetic disorders.
