Contrary to what you might think, the 'Christmas Disease' isn't named after the festive season.
In fact, this alternative name for Haemophilia B was coined in honour of a patient named Stephen Christmas. The young Canadian boy, 5, was diagnosed in 1952 when only one type of haemophilia was known – a condition where individuals lack the specialised protein clotting factor VIII, putting them at risk of severe bleeding.
However, coagulation researchers Rosemary Biggs and Robert McFarlane discovered that Christmas was missing a different blood clotting protein, clotting factor IX, and decided to name the newly identified disease after him. Both forms of haemophilia are lifelong, inherited bleeding disorders and can be classified as mild, moderate or severe. Haemophilia is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome.
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This location is crucial: males are more likely to suffer from haemophilia than females because they typically have only one X chromosome. This means if the IX gene is missing, there's no second copy (as most females have) of X to take over the work of producing factor IX.
Patients with haemophilia bleed for longer periods, but not faster than unaffected individuals. The Centers for Disease Control (CDC) has issued a warning that bleeding in a vital organ like the brain can lead to long-term complications, such as seizures and paralysis, and in rare cases, even death.
However, with appropriate treatment and care, there's no reason why individuals with Haemophilia B can't lead healthy, fulfilling lives – although they are generally advised to avoid activities like contact sports. Blood tests can diagnose haemophilia and determine its severity.
The NHS states that most cases of Haemophilia B are severe and necessitate preventative treatment, typically regular injections of a medicine known as nonacog alfa (BeneFix), an engineered version of the clotting factor IX which patients lack. Genetic and genomic testing can identify the risk of passing the condition on to offspring.
Tests during pregnancy can also diagnose haemophilia in the foetus, such as chorionic villus sampling (CVS) – where a sample of the placenta is tested for the haemophilia gene, usually between 11 and 14 weeks of pregnancy – but these procedures carry a slight risk of miscarriage or premature labour.
Signs and Symptoms of Haemophilia B
