Carriers of factor VII deficiency are not always asymptomatic

Summary. Seven children, referred because of bleeding symptoms, proved to be heterozygotes for factor VII deficiency. Abnormal bruising was the commonest symptom (6/7), followed by postoperative bleeding (4/7). One case had recurrent epistaxis. Results on the patients and their families are presented. Prothrombin times were prolonged by 2–3 s and factor VII assays ranged from 25 to 55% (mean 38%). The cases are reported because they bled excessively: yet it is usually stated that carriers for factor VII deficiency are symptom-free. One case of homozygous factor VII deficiency is also described: the parents (who are heterozygotes) were symptom-free.