Plasma thromboplastin component deficiency: I. Studies on its inheritance and therapy

Abstract

1. 1. A case is presented of plasma thromboplastin component deficiency in a fifteen year old male, clinically resembling true hemophilia (antihemophilic globulin deficiency). Routine coagulation studies differed in no way from that of classical hemophilia. 2. 2. Mixtures of the patient's plasma with that of true hemophilic plasma, and plasma from a patient with plasma thromboplastin antecendent deficiency upon recalcification showed mutual correction. No such correction was evident with plasma from two other cases of plasma thromboplastin component deficiency. 3. 3. Hemophilic plasma, PTA deficient plasma, normal plasma, normal serum and normal plasma stored at 4 °c. for periods as long as nineteen days could correct the coagulation defect of the patient in vitro. Barium sulfate-adsorbed plasma, antihemophilic globulin and plasma from other patients with plasma thromboplastin component deficiency were lacking in corrective effect. 4. 4. Therapeutic trials with frozen fresh normal plasma, normal plasma stored at 4 °c. for seven days and fourteen days, citrated normal serum stored at 4 °c. for seven days and even hemophilic plasma stored for seven days at 4 °c. indicated the effectiveness of these preparations. Although the serum prothrombin activity became quite high seventy-two hours after administration of such plasmas, clinical disease did not appear for at least one week after administration. Antihemophilic globulin had no therapeutic or laboratory effect, restricting its use to cases of true hemophilia only. 5. 5. A family history of hemorrhagic disturbance on the maternal side was elicited, the disease appearing exclusively in males in its overt form. The carrier state in the female was essentially asymptomatic except in the patient's mother where spontaneous ecchymoses and post-operative bleeding appeared. Serum prothrombin consumption in the mother was borderline and her ability to correct the defect in her son was poorer than other relatives although the correction did occur. 6. 6. The need for routine identification of the specific deficiency in each patient now suspected of hemophilia is stressed, especially as a prerequisite to a rational approach to therapy. A terminology based upon such identification is proposed and should do much to dispell the confusion surrounding the use of the term hemophilia in many related and non-related coagulation disturbances.