Abstract
We report a Pakistani boy with severe congenital factor V deficiency with abnormal factor V protein. He was born in Berlin as a first child of Pakistani parents with consanguinity. He has suffered from mucocutaneous bleeding since his neonatal period. He was diagnosed as congenital factor V deficiency (severe form) because of extremely low level of plasma factor V activity. Since the age of ten he has had three attacks of intracranial hemorrhage, and each of them was successfully treated with fresh frozen plasma. His plasma factor V activity was less than 1 % that of normal, whereas factor V antigen measured by enzyme immunoassay was 21 % that of normal. From these data, we diagnosed him as having severe congenital factor V deficiency with abnormal factor V protein. Coagulation study of all family members revealed that factor V antigen and activity were moderately decreased in his parents and brother, who were thought to be heterozygous carriers. This mode of inheritance was compatible with that of autosomal recessive trait.
