5 December 2024

Christmas disease is not as festive as it sounds

The story of Stephen Christmas – for whom the clotting condition was named – highlights both medical advances and the devastation caused by infected blood products.

By Phil Whitaker

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.

By then, Stephen was back in Canada with his expatriate parents. Average life expectancy for patients with haemophilias was only 21 years. Stephen’s childhood was punctuated by spells in hospital suffering haemorrhage into joints and other complications. His parents will have endured painful years watching their son deteriorate.

Yet research into causes led to the development of treatments. From the mid 1950s, injections of extracts from bovine or porcine plasma enabled doctors temporarily to correct clotting. These animal-derived products often provoked an immune reaction, though, limiting their usefulness. But breakthroughs in techniques to precipitate and preserve human clotting factors led to treatments that patients could even self-administer at home. Life expectancy and quality of life were revolutionised. Stephen lived to start university, and went on to study photography and worked as a taxi driver and film editor among different roles.

From the earliest days of administering human-derived Factors VIII and IX, however, doctors noted some patients going on to develop liver disease: unidentified pathogens must be being transmitted through human blood products. Risk was greatest when donors were paid for their blood, rather than volunteering altruistically. And clotting factor concentrates were more dangerous when derived from large pools of donors, the chance of contamination being substantially higher. Treating blood products with heat or UV light mitigated but didn’t eliminate infection. A 1981 editorial in the British Medical Journal summarised this knowledge yet did so with a metaphorical shoulder shrug – liver disease was seen as the “price” haemophiliacs may have to pay for life-transforming treatment.

What came to be identified as hepatitis C has proved a very high price for many. And the early 1980s saw the rapid spread of the Aids virus by the same route. Stephen was diagnosed HIV-positive in 1985 and devoted himself thereafter to campaigning in Canada for the victims of infected blood products. He received compensation in 1989, which eased considerably the final four years of his life. He died of skin cancer, probably HIV-related, in 1993 at the age of 47.

Canada was far from perfect in its response to the issue, but it puts the UK into sharp relief. Only in Rachel Reeves’ recent Budget has our government finally established a fund of £11.8bn to compensate the more than 30,000 Britons affected. Payments are due to start by the end of the year. For victims and their families, this may be their final Christmas waiting for a just settlement. However, for thousands of people, it is years – or decades – too late.