Abstract
We have studied five families in whom one or more children have hereditary spherocytosis (h.s.). In the affected patients, crythrocyte ouabain-insensitive sodium efflux was significantly greater than normal in intact fells and isolated membranes. This is consistent with an increased permeability to sodium of these cells.
In each of the five families, neither parent had clinical or hemotological evidence of h.s. Four often parents had crythrocyte sodium efflux patterns identical to that found in classical h.s. compared to three of thirty normal controls with similarly elevated values (X2 = 4.6; p < 0.05).
These findings suggest:
1. The increased sodium permeability of h.s. crythrocytes is unrelated to their shortened life span, since similar sodium flux can be found in erythrocytes with normal life span.
2. The gene for h.s. can manifest as an increase in erythrocyte sodium permeability with no abnormality in morphology or life span of the red blood cell.
(Supported by a grant from the Medical Research Council of Canada.)
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Zipursky, A., Israels, L. Erythrocyte Sodium Flux in Hereditary Spherocytosis: Its Significance. Pediatr Res 4, 465 (1970). https://doi.org/10.1203/00006450-197009000-00125
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DOI: https://doi.org/10.1203/00006450-197009000-00125