A Family of Congenital Atransferrinemia

Abstract An 8-yr-old boy with familial congenital atransferrinemia was studied. He had marked hypochromic anemia but did not respond to administration of iron. The patient responded favorably to parenteral "Eisen-mangel" human serum transferrin. One gram of transferrin was infused intravenously; it disappeared almost completely from the serum within a week. However, the hemoglobin and erythrocytes increased, and there was general improvement in the color and activity of the patient. After 3-6 mo, his clinical picture had returned to that seen prior to treatment. Thus, it appeared that the hemopoiesis was stimulated by transferrin and that the clinical effectiveness of transferrin was related to the resultant increased red cell production and the duration of the effect to the life-span of the erythrocyte. Neither side effects nor reduction in the effectiveness of transferrin administration was noticed during a year and a half of treatment.