The history of haemophilia.

The history of haemophilia shows the human mind attempting to define and encompass a mysterious yet fascinating phenomenon; and also the human heart responding to the challenge of repeated adversity. These responses have not remained isolated but have frequently interacted. As doctors have studied haemophilia in order to try to do more for their patients, their investigations have notably advanced our general understanding of haemostasis; and as haemophiliacs have benefited from improvements in their treatment, they have been eager to help by giving blood samples for experiments as well as in raising funds for research. The mutation giving rise to haemophilia is probably of great age because it occurs in at least three Orders of placental mammals, the Perissodactyla (Ungulata), the Fissipedia (Carnivora), and the Anthropoidea (Primates); for haemophilia has been described in the horse (Nossel et al, 1962) and in nine breeds of dog (Field et al, 1946; Graham et al, 1949; Kaneko et al, 1967) as well as in various races of man. The Orders to which these groups belong may have been distinct from the end of the Cretaceous, say 65 million years ago; and the mutation has probably recurred independently many times, in all three, since it must be nearly lethal in the wild state. The mutation rate in man has been estimated at about 1 4 x 10-5 (WHO, 1972).