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Red cell membrane and cation deficiency in Rh null syndrome
SK Ballas, MR Clark, N Mohandas, HF Colfer, MS Caswell, MO Bergren, HA Perkins and SB Shohet
A 52-yr-old multiparous white female was found to have Rh null blood type.
She had macrocytic anemia, with reticulocytosis (15%-20%), of long
duration. Although stomatocytes in peripheral blood were numerous and
osmotic fragility was increased, suggesting increased cell water, the RBC
cation content, and thus cell water, was decreased. Cell dehydration was
confirmed by an increased proportion of high density RBC on Stractan
density gradients. The deformability of RBC from four gradient
subpopulations was measured in the ektacytometer as a function of
suspending medium osmolality. Analysis of these measurements showed an
abnormal reduction in cell surface area with increasing cell density, thus
explaining the increased osmotic fragility of whole blood. This was
confirmed by a density-dependent reduction in cell cholesterol content,
suggesting membrane instability in vivo. Rh null subpopulations showed a
twofold increase in both ouabain-sensitive and - insensitive Na-K ATPase
activity and 86Rb transport, even in the dense fraction with the fewest
reticulocytes. No membrane protein or glycoprotein abnormality was detected
by SDS-PAGE. The associated deficiencies of both membrane surface area and
cation content in Rh null cells, as well as increased Na-K pump activity,
suggest a pleiotropic functional interrelationship among Rh antigen,
membrane stability, and cation regulation.
Volume 63,
Issue 5,
pp. 1046-1055,
05/01/1984
Copyright © 1984 by The American Society of Hematology
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