Haemophilia B is a rare disorder that sees patients unable to properly control their blood clotting and can be life-threatening
You might be mistaken in thinking that the ‘Christmas Disease’ got its name from the festive season.
However, this alternative term for Haemophilia B was actually named after a patient called Stephen Christmas.
The five-year-old Canadian lad was diagnosed in 1952 when there was only one known type of haemophilia – a condition where people lack the specialised protein clotting factor VIII and are therefore at risk of severe bleeding. Then, coagulation researchers Rosemary Biggs and Robert McFarlane discovered that Christmas was missing not this blood clotting protein but a different one, clotting factor IX, and decided to name the new disease after him.
Both types of haemophilia are lifelong, inherited bleeding disorders and can be categorised as mild, moderate or severe. Haemophilia is caused by an inherited X-linked recessive trait, meaning the defective gene is located on the X chromosome.
This placement is significant: males are more likely to suffer from haemophilia than females because they typically only have one X chromosome, meaning if the IX gene is missing, there is no second copy (as with most females) of X to take over the work of making factor IX. Patients with haemophilia bleed longer but not faster than unaffected individuals.
The Centers for Disease Control (CDC) warns that bleeding in a vital organ like the brain can cause long-term problems, such as seizures and paralysis, and on rare occasions even death, reports the Mirror.
However, with the right treatment and care, there’s no reason why Haemophilia B patients can’t lead healthy, fulfilled lives – although most are advised to steer clear of activities like contact sports. Blood tests can diagnose haemophilia and determine its severity.
According to the NHS, most cases of Haemophilia B are severe and require preventative treatment, typically regular injections of a medicine called 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 a child.
There are also tests during pregnancy that can 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 small risk of miscarriage or premature labour. Signs and Symptoms of Haemophilia B.
