Congenital stomatocytosis with hemolytic anemia--with abnormal cation permeability and defective membrane proteins
Rix, M.; Bjerrum, P.J.; Wieth, J.O.; Frandsen, B.
Ugeskrift for Laeger 153(10): 724-726
1991
ISSN/ISBN: 0041-5782 PMID: 2008721 Document Number: 375863
A case of hereditary stomatocytosis with haemolytic anaemia in a nine year-old girl is presented. This rare syndrome is associated with increased permeability for monovalent cations across the erythrocyte membrane leading to high intracellular sodium (72 mmol/l erythrocytes) and low potassium (32 mmol/l erythrocytes) accompanied by an increased water content. In our patient the passive Na+ and K+ flux were increased to approximately 20 times normal with a compensatory maximal activation of the normal Na, K transport. The cation permeability defect was partly corrected in vitro by a bifunctional imidoester, dimethyl suberimidate. Electrophoresis of solubilizer membrane proteins revealed changes in the protein band pattern with reduction of band 7, as reported previously, and increase in the band 4.1a/4.1b ratio and increased band 4.8.