Idiopathic Dyserythropoietic Jaundice

1. The term "dyserythropoietic jaundice" is used to designate a peculiarabnormality characterized by marked overproduction of bilirubin and associated with unconjugated hyperbilirubinemia and great excesses of fecalurobilinogen. Labeling with N¹⁵ glycine revealed that these excesses weremainly unrelated to destruction of mature circulating red cells, which hadonly a slightly shortened life span.

2. The hyperplastic, normoblastic bone marrow exhibited considerablephagocytosis of red cells and normoblasts and marked hemosiderosis withmany iron-laden phagocytes. Siderocytes were relatively rare in the peripheralblood, which also exhibited consistent reticulocytosis, 3-10 per cent, butnormal erythrocyte porphyrin concentrations. There was increased plasmairon turnover but decreased appearance of Fe⁵⁹ in the circulating red cells.

3. The possibility is considered that there is a basic abnormality in hemoglobin synthesis in the normoblasts, with excessive production of hemoglobin or heme which is then converted to bilirubin either within thenormoblast or after excretion into the blood. The observed phagocytosis ofnormoblasts and erythrocytes may be a secondary rather than basic disturbance of the disease.

4. This case appears to represent a unique form of chronic jaundice dueto a remarkable overproduction of bilirubin without evidence of hemolysisin the ordinary sense. The extent to which this is related to intramedullarydestruction of young red cells or to a basic abnormality in hemoglobin synthesis in the normoblasts, as above, cannot be determined. It is consideredless likely that the overproduction is due to a true shunt—that is, bilirubinformation from porphyrin precursors. The marked dyserythropoiesis suggeststhat the overproduction of bilirubin was medullary rather than hepatic,although the latter is not excluded.

Submitted on December 26, 1963 Accepted on March 3, 1964