Characteristics of the membrane defect in the hereditary stomatocytosis syndrome.

Abstract

Cation permeability and lipid composition have been studied in the red cells of five patients with various features of the hereditary stomatocytosis syndrome. Hemolysis was compensated in four patients, and only one patient was anemic. Cell NA+ was increased an average of 3 mueq per ml cells and cell K+ decreased 14 mueq per ml cells. Both active and passive fluxes of Na+ and K+ were increased by two to six times normal. Tritiated ouabain binding was increased an average of 2.5-fold, suggesting a proportionally greater number of cation pumps per cell. The coupling ratio of active Na+:K+ fluxes was normal (3:2). Calcium permeability was increased compatible with the degree of reticulocytosis,..