Familial Hemolytic Anemia with Erythrocyte Inclusion Bodies and a Defect in Pigment Metabolism

1. Two patients, a father and his only son, suffered from a severe congenital hemolytic syndrome, which was characterized by the presence of spontaneous inclusion bodies in erythrocytes and by the excretion of dark-brown pigments in the urine.

2. The inclusion bodies present in approximately one-third of the erythrocytes, were indistinguishable from Heinz-Ehrlich bodies. They occurred in reticulocytes and occasionally in normoblasts. In addition to these bodies, many erythrocytes contained basophilic stippling, siderocytic granules and rod-like structures. These morphologic abnormalities are believed to be the result of an inherited metabolic abnormality of the red cells.

3. The urinary pigments were found to have properties which were similar to mesobilifuscin. It is believed that these pigments possessed a dipyrrolic structure and were derived from erythrocyte catabolism.

4. Transfusion of the patient’s erythrocytes into a normal recipient resulted in rapid removal of the heterologous cells from the circulation and in excretion of similar dark pigments in the urine.