Abstract
Stomatocytosis is a rare inborn hemolytic anemia, which is characterized by a typical shape of the erythrocytes, high intracellular Na± and low K± values and increased rates transport of Na+ and K+ through the membrane. This can be demonstrated by a high activity of the membrane-bound Na+, K+-ATPase. A membrane defect has been discussed as a cause of this disease for a long time. In a case of a 7-year-old boy the EDTA-extractable erythrocyte proteins were separated on a two-dimensional electrophoresis in polyacrylamide gel. The separation in SDS dependent on the molecular weight was combined with the isoelectric focussing in urea. In this system distinctive differences between normal erythrocytes and stomatocytes can be demonstrated. Hence we conclude that the most probable explanation of the structural and metabolic changes in Stomatocytosis is that of specific alterations of the membrane proteins.
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Bienzle, U., Bhakdi, S., Niethammer, D. et al. Alteration of membrane proteins as a possible cause of stomatocytosis. Pediatr Res 8, 900 (1974). https://doi.org/10.1203/00006450-197411000-00036
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DOI: https://doi.org/10.1203/00006450-197411000-00036