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確定診断前に凝固第VIII因子(F VIII)製剤の緊急投与を要した重症型血友病A の2 乳児例を報告する.症例1 は10 か月男児.反復する嘔吐を主訴に入院した.左上肢に腫張を伴う筋肉内出血と硬膜外血腫を認めた.症例2 は10 か月男児.止血困難な口唇裂傷後の出血を主訴に来院し,重度の貧血を認めた.2 例ともプロトロンビン時間(PT)正常,活性化プロトロンビン時間(APTT)の著明な延長より,血友病を強く疑った.いずれも重篤な出血を認めたため,凝固因子活性値による確定診断を待たず,緊急でF VIII製剤の投与を試みた.投与後2 例ともAPTT は改善し,出血症状も改善した.後日2 例ともにF VIII活性が1%未満と判明し,重症型血友病A と確定診断された., The cause of hemophilia A and B involves loss of factor VIII( FVIII) and factor IX( FIX), respectively. The hereditary form of this hemorrhagic disease is X-linked recessive. It is well established that the critical region for hemophilia A is localized on Xq28 and for hemophilia B on Xq27.1- 27.2. The initial symptom is bleeding in the mucous membranes often accompanied by intramuscular and intraarticular hemorrhage. The hemorrhages in the joints cause joint contracture as a sequela. The diagnosis of hemophilia is based on a normal bleeding and prothrombin time(PT)and prolonged activated partial thromboplastin time (APTT). We report here two infants of the severe typical from of hemophilia A who were treated with sufficient needed dosage of recombinant factor VIII before a final diagnosis was made. Case 1 was a 10-month-old boy. He was hospitalized for recurrent vomiting. He had intramuscular bleeding with swelling of the left shoulder and upper extremity. A head CT showed multiple epidural hematomas. Case 2 was a 10-month-old boy. He was sent to our hospital because of a lip laceration that did not stop bleeding, and he had severe anemia. We made the diagnosis of hemophilia A based on both their normal laboratory finding of PT and on the finding of extended APTT. Before confirming the decision diagnosis of hemophilia, we intravenously injected recombinant FVIII immediately, because of the severe hemorrhagic symptoms. After the therapy, both the APTT and hemorrhagic symptoms improved. These two cases were later confirmed as a severe infantile form of hemophilia A with less than 1 % factor VIII activity.