CLINICAL CONFERENCE Disorders of Coagulation of Blood

155 PEDIATRICS, January 1958 DR. SCHULMAN: The case we would like to discuss is one chosen for its own intrinsic interest, and also because it provides a good opportunity to illustrate some of our newer know!edge of coagulation in general, and hemophilia in particular. The patient is a 4-year-old boy who was referred to this hospital for investigation of a hemorrhagic diathesis. His birth was normal and at the age of 7 days he was circumcised without difficulty. At 1 year of age he developed bleeding from a traumatic laceration of the left upper eyelid, which persisted for 5 days. At the age of 3 years he apparently fell and bit his tongue. This led to persistent bleeding for a period of 14 days, despite the administration of three transfusions. At 3 h2 years of age, an upper central incisor became loose, resulting in bleeding for 3 days. At 4 years he suddenly developed a painful swelling of the right knee, which increased in severity for 5 days. Joint aspiration yielded 20 ml of blood. At no time did this boy have any other manifestations of bleeding. There had been no nose bleeds. The members of the family are indicated in Figure 1 . This patient has two brothers who are unaffected and three sisters who are also unaffected. The mother and father are unaffected. However, the mother’s paternal uncle had a severe hemorrhagic disease and, in addition, the mother’s sister has two sons who also have bleeding manifestations. The disease, then, apparently occurs only in males. It skips a generation and is apparently transmitted by females. This is the classic sex-linked, recessive inheritance which we have come to associate with hemophilia. The major difficulty with this patient was that in repeated studies prior to admission-and these were studies which were more than routine-no abnormality was found. The bleeding time and the clotting time were consistently normal. Platelets, prothrombin, fibrinogen, calcium, clot retraction, and tourniquet tests were also normal (Table I). This, then, is a situation in which a boy has a strong family history of bleeding, a definite history of bleeding himself, but more than routine studies fail to disclose any abnormality. So we are left with the problem: Does this boy have a hemorrhagic disease? And if so, how is a diagnosis established? The current concept of the coagulation