Hemolytic Anemia Associated with Decreased Concentration of Reduced Glutathione in Red Cells

Abstract

Three cases of hemolytic anemia with decreased concentration of reduced glutathione in red cells are described. They all have had signs of hyperhemolysis from early infancy and 2 exchange-transfusions had to be performed in one of them. In 2 of them stomatocytes are present in their blood smears and in one of them high sodium and low potassium in the erythrocytes is observed. Family studies reveal several apparently healthy members with the same deficiency and presenting evidence of mild to moderate hyperhemolysis. Genetic transmission was dominant-autosomal. The phenotypic expression seems to differ greatly. In 1 case who presented with gallstones at the age of 19 years splenectomy beneficially influenced the intensity of the hemolytic process.

Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis

“…The moderate decrease in reduced glutathione (GSH) concentration found in OHSt patients' RBCs is in line with decreased RBC GSH concentration in 3 cases of hemolytic anemia 11 and is consistent with the decrease in GSH concentration probably being linked to the young age of OHSt patients' RBCs (Figure 2A). We also found a 12-fold decrease of oxydized glutathione (GSSG) concentration ( Figures 1B and 3A and B).…”

Stomatocytosis, abnormal platelets and pseudo‐homozygous hypercholesterolaemia

“…The autohaemolysis at 48 h without glucose was 9.7% (0.2-20io), reducing to 1.0% with glucose (0-0.9%); the median osmotic fragility was increased at 4.7 g/l-l (normal, 4.00-4.45), and the 51Cr-labelled red cell survival was reduced at 9 d (normal, >26). The direct Coombs test, Schumm's test, haemoglobin electrophoresis, glucose-6-phosphate dehydrogenase screen, plasma iron and iron binding capacity, red cell 2,3-diphosphoglycerate and reduced glutathione levels (7) were all either normal or negative. The blood group was 0 Rhesus positive, excluding the Rhesus Null condition (8).…”