Abstract
Extract: Erythrocyte sodium transport was studied in five families of patients with hereditary spherocytosis (HS). Values for ouabain-insensitive sodium efflux in the group with HS (mean = 19.9% of cellular sodium-22/hr, so = ±2.7) were significantly greater (P < 0.001) than those found in the normal group (mean = 13.8%, SD = ±2.7). No clinical evidence of HS was found in the parents; however, 4 of the 10 parents had ouabain-insensitive erythrocyte sodium-22 cfllux rates in the HS range in comparison to 3 of 30 control subjects, a statistically significant difference (x2 = 4.67; P < 0.05).
Speculation: The finding of high erythrocyte, ouabain-insensitive sodium efflux rates in hematologically normal parents of patients with hereditary spheroeytosis (HS) suggests that the shortened erythrocyte life span in patients with HS is unrelated to the increased erythrocyte sodium permeability and that the gene for HS may manifest itself merely as an increase in erythrocyte sodium permeability with no other hematological abnormality.
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Zipursky, A., Israels, L. Significance of Erythrocyte Sodium Flux in the Pathophysiology and Genetic Expression of Hereditary Spherocytosis. Pediatr Res 5, 614–617 (1971). https://doi.org/10.1203/00006450-197111000-00005
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DOI: https://doi.org/10.1203/00006450-197111000-00005