Once upon a time in a land far away, in fact England in 1947, a boy called Stephen was born. While he was still a baby, his family took him to live in Canada where he soon started having problems with severe bleeding. At the age of 2 years he was diagnosed with haemophilia. On a visit back to England in 1952 at the age of 5yrs, Stephen unfortunately ended up back in hospital with a bleed. The doctors thought that his blood clotting tests were not quite as expected for somebody with Haemophilia, so they sent some of Stephen’s blood to Rosemary Biggs and Robert McFarlane in Oxford. These scientists were probably the leading experts on blood clotting at the time.
They did some very simple experiments. They had shown that if you take the blood of a person with severe Haemophilia and mix it with blood from somebody without haemophilia, the blood will clot normally. The reason is that the factor that is missing in haemophilia (factor VIII) is replaced by the normal blood. However if you mix the blood from 2 people with Haemophilia it will not clot. But when they studied Stephen’s blood they got different results; they mixed Stephen’s blood with blood from another person with Haemophilia and the blood unexpectedly clotted normally. From these studies they were able to show that some people with Haemophilia had a different clotting factor missing, it was much later that it was identified as factor IX deficiency.
Biggs and McFarlane decided to call the disease after their first patient, Stephen Christmas; so it became known as Christmas Disease. They decided to publish their findings in the British Medical Journal. This Journal has a reputation for publishing more amusing or spoof articles in their Christmas edition along with genuine research. The article about Christmas Disease by Biggs and McFarlane was published on 27th December 1952. Many people believed it was a joke article, especially as the patient was called Mr Christmas. It took some time to convince some doctors that it really was a new disease.