Abstract
CGD patients lack the Kell group precursor substance, Kx, on their leukocytes (CGD-1, x3K allele). Some CGD patients also lack Kx substance on their RBC's and have variable degrees of echinoacanthocytic changes associated with mild compensated hemolysis (CGD-2, x2K allele, Mcleod Phenotype). In one patient available to us with documented CGD-2, scanning electron microscopy revealed ∼ 25% echino-acanthocytic RBC. Several other parameters were normal: red cell cholesterol and fractionated phospholipids, osmotic fragility, RBC Na+ and K+, and membrane Ca++. However, the cells were less filterable through 3 micron pores than control. Maternal RBC's (dimorphic population Kx+, Kx−) were slightly less filterable. Furthermore, micropipette membrane aspiration of both morphologically normal and abnormal cells showed membranes more resistant to fragmentation. Finally, membrane SDS poly-acrylamide gel electrophoresis (PAGE) stained for protein showed absence of a low molecular weight band and the presence of a unique higher molecular weight diffuse band. The abnormalities of filterabllity, micropipette aspiration, and PAGE suggest an intrinsic membrane defect as the etiology for the compensated hemolysis in these patients.
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Smith, C., Coccia, P., Eaton, J. et al. RED BLOOD CELL (RBC) ABNORMALITIES IN CHRONIC GRANULOMATOUS DISEASE (CGD) WITH MCLEOD PHENOTYPE. Pediatr Res 11, 481 (1977). https://doi.org/10.1203/00006450-197704000-00666
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DOI: https://doi.org/10.1203/00006450-197704000-00666