You might mistakenly believe that the so-called ‘Christmas Disease’ got its name from the Christian holiday. However, this alternative moniker for Haemophilia B actually originated from the first patient’s name, Stephen Christmas.
When the five-year-old Canadian was diagnosed in 1952, only one type of haemophilia was known – a condition where individuals lack the specialized protein clotting factor VIII, putting them at risk of severe bleeding. Then, coagulation researchers Rosemary Biggs and Robert McFarlane discovered that Christmas was missing not this blood clotting protein but another one, clotting factor IX.
They decided to name the new disease after him. Both types of haemophilia are lifelong, inherited bleeding disorders that can be categorized as mild, moderate, or severe.
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Top docs have warned about this rare disease (
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Haemophilia is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome. This location is crucial: males are more likely to suffer from haemophilia than females because they typically have only one X chromosome.
If the IX gene is missing, there is no second copy (as most females have) of X to take over the work of making factor IX. Patients with haemophilia bleed longer but not faster than unaffected individuals, reports the Mirror.
The Centers for Disease Control (CDC) warns that bleeding in a vital organ like the brain can lead to long-term issues, such as seizures and paralysis, and in rare cases, even death.
However, with the right treatment and care, there’s no reason why Haemophilia B patients can’t lead healthy, fulfilled lives – though 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.
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