Christmas disease, first described in 1952, has faded into history. A group of researchers in Oxford analysed blood samples from a five-year-old British-born Canadian boy called Stephen Christmas. Since he was 20 months old, Stephen had suffered abnormal bleeding, which had been ascribed to “haemophilia”, though the specifics of his case didn’t quite fit. The Oxford group, led by Dr Rosemary Biggs, proved he was lacking an as-yet unidentified clotting agent, different from the defect in “haemophilia”, which they labelled “Christmas factor”.
The 1940s and 1950s had already seen rapid advances in identifying the myriad proteins involved in blood clotting. However, the sequence in which these “factors” cascaded into each other (picture dominoes falling in a line) was still unclear. By the late 1950s, all 12 classical coagulation factors had been identified, and the Roman numeral nomenclature that remains in use today had become standardised. The commonest bleeding disorder – which had until then been known simply as “haemophilia” – was a deficiency in Factor VIII. It was renamed haemophilia A. Christmas factor became known as Factor IX, and Christmas disease – around six times rarer than haemophilia A – became known as haemophilia B.
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