Abstract
Marked poikilocytosis accompanied by membrane fragmentation and microspherocyte formation have been described in occasional cases of hereditary elliptocytosis. We have studied a healthy 10 year old black male with a compensated hemolytic anemia, elliptocytosis and severe red cell fragmentation. Several parameters known to affect RBC membrane stability were found to be normal: pyruvate kinase activity, RBC ATP content, unstable hemoglobin evaluation, direct and indirect Coomb's tests, membrane thermal sensitivity, RBC calcium and calcium permeability, RBC cholesterol and phospholipid content, and the distribution of membrane phosphatides including phosphatidyl ethanolamine. The only abnormality found was a RBC GSH content approximately 50% of normal (below that seen in most G-6-PD deficiencies). Furthermore, in centrifugally-separated cells, GSH content decreased progressively with increasing cell density. Unlike G-6-PD deficiency the low GSH content was not accompanied by abnormal oxidant sensitivity; GSH was not diminished by incubation with ascorbate-aminotriazole and no methemoglobin or sulfhemoglobin was formed. Enzymes involved in GSH metabolism (GSH reductase, G-6-PD, GSH peroxidase) were slightly elevated. Incubation of RBC with H3-glutamate, with subsequent molecular weight separation of the GSH inermediates, suggests an intact GSH synthetic pathway but diminished H3-glutamate content. The low RBC GSH may be related to the RBC morphologic features and hemolysis.
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Smith, C., Coccia, P., Krivit, W. et al. 659 HERIDITARY ELLIPTOCYTOSIS, RED CELL FRAGMENTATION, AND DECREASED GLUTATHIONE (GSH). Pediatr Res 12 (Suppl 4), 473 (1978). https://doi.org/10.1203/00006450-197804001-00664
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DOI: https://doi.org/10.1203/00006450-197804001-00664