Familial haemophilia and factor VII deficiency.

This investigation is reported because of the combination of familial haemophilia and factor VII deficiency and the unusual occurrence of a female haemophiliac. Cases of combined deficiencies of different clotting factors are extremely rare and up till now there have been reported combinations of haemo-but not of haemophilia and factor VII deficiency. Female haemophiliacs in the homozygous state have been reported by Merskey (1951), Israels, Lempert, and Gilbertson (1951), and in the hetero-zygous state by Taylor and Biggs (1957) and Fantl and Margolis (1955), their fathers being completely normal. The patient reported here is apparently in the heterozygous state since her father had no bleeding phenomena during his life. Family History Colin Br. (aged 11) bruised easily when an infant. He was admitted to hospital for the first time in 1949, when 3 years old, with a haematoma of the right calf. On admission in 1951 a diagnosis of haemophilia was made in view of the prolonged plasma clotting time and reduced prothrombin consumption. He was readmitted several times afterwards with haemar-throses of knees and hip. He was first seen at this hospital in March, 1957, when he was admitted with bruises on his legs and severe prolonged bleeding from the gums. Routine investigations showed only an unexpectedly prolonged prothrombin time (20/14 sec.). He was transfused with 2 pints of fresh A rhesus-negative blood and given vitamin K1. Next morning the prothrombin time was 15 /13 sec. and bleeding was diminished. Several teeth were then extracted and treated in the following days and he was discharged well. Three months later he was readmitted with a few bruises on the legs and bleeding gums. Bleeding subsided with local treatment and vitamin K1. Brenda, his sister (aged 10), appears normal without any haemorrhagic manifestations up till now. Eileen Br., his mother (aged 46), revealed that she had had excessive bleeding during both her deliveries, during and after a hysterectomy, being transfused in order to control haemorrhage, and after tooth extractions at different times. Frank G. (aged 43), his maternal uncle, has bled since a small child after trauma and tooth extractions , oozing from sockets usually persisting for about three days. In 1948 he had a blow in the abdomen which was followed by severe haematemesis and melaena and he was transfused in order to control the haemorrhage. Frank G.'s daughter was not available, but according to her father she has no …