A New Congenital Hemolytic Anemia With Deformed Erythrocytes (? "Stomatocytes") and Remarkable Susceptibility of Erythrocytes to Cold Hemolysis in Vitro

A new variant of congenital hemolytic anemia is described. The principal clinical findings are moderately severe hemolytic anemia, jaundice, and splenomegaly; congenital ptosis of an eyelid may possibly be an associated anomaly. Splenectomy resulted in clinical improvement but did not completely arrest abnormal hemolysis nor alter red cell abnormalities. Laboratory data are presented which characterize the condition; the principal abnormalities detected thus far are: (1) abnormal morphology of the erythrocytes ("stomatocytes"); ) increased osmotic fragility and autohemolysis; (3) storage instability greater at 5°C than at 37°C; (4) decreased concentration of reduced glutathione despite normal G-6-P-D and G-6-P-D coupled glutathione reductase activities. The disorder is compared with hereditary spherocytosis and hereditary stomatocytosis; similarities to and differences from these disorders are reviewed.