Role of the spleen in congenital stomatocytosis associated with high sodium-low potassium erythrocytes.

A girl of German origin with severe congenital hemolytic anemia was found to have overhydrated erythrocytes with markedly increased sodium and reduced potassium concentrations. The cells were stomatocytic with increased osmotic fragility and autohemolysis. Their excessively increased energy production was mainly used for active cation transport. The cells were highly vulnerable to metabolic depletion. Their normal deformability was reduced rapidly during deprivation of glucose. In acidic, hypoglycemic environment of the splenic pulp the cells become swollen and lysed. After splenectomy anemia improved though increased hemolysis persisted.