Abstract
Extract: A newborn infant of Philippine parents was found to have a morphological abnormality of his erythrocytes consisting of an elliptical shape of the cells and one or more transverse slitlike areas of decreased density. These changes were also present in erythrocytes of the patient's father, a half-sister of the father, and four of the patient's six siblings. None of the affected family members had anemia or evidence of abnormal hemolysis, and erythrocyte survival by the radiochromium method was normal in three of the individuals studied. Erythrocytes from the affected family members had an increased degree of autohemolysis after incubation for 48 hr, but this was prevented almost entirely by addition of glucose. Glucose consumption in vitro by erythrocytes of the propositus occurred at a rate approximately 60% greater than that of normal controls. The intracellular sodium concentration of the erythrocytes was not different from that of erythrocytes from normal individuals, but a moderate decrease in intracellular potassium was found. When washed cells were incubated in a glucosefree medium, sodium gain and potassium loss were significantly greater than from cells of normal controls. When compared with normal values, efflux of radiosodium was increased during incubation of cells in glucose-containing medium. Erythrocytes from the affected individuals had decreased osmotic fragility, and osmometric measurements indicated a lesser degree of cell swelling in hypotonic solutions than occurred with cells from normal controls.
Speculation: The findings in this family demonstrate that increased erythrocyte cation permeability need not be associated with an accelerated rate of hemolysis. In these individuals the absence of hemolytic disease may reflect a capacity of the erythrocytes to compensate for increased cation permeability by an elevated rate of glycolysis-linked ion transport. This compensatory process would appear to be virtually unaffected by interaction of the erythrocytes of these individuals with the spleen.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Honig, G., Lacson, P. & Maurer, H. A New Familial Disorder with Abnormal Erythrocyte Morphology and Increased Permeability of the Erythrocytes to Sodium and Potassium. Pediatr Res 5, 159–166 (1971). https://doi.org/10.1203/00006450-197104000-00003
Issue Date:
DOI: https://doi.org/10.1203/00006450-197104000-00003
Keywords
This article is cited by
-
Role of the spleen in congenital stomatocytosis associated with high sodium low potassium erythrocytes
Klinische Wochenschrift (1981)