Abnormal membrane protein of red blood cells in hereditary spherocytosis

摘要: Abstract We present evidence that the hereditable hemolytic disease, hereditary spherocytosis (HS), involves an abnormality in protein of red cell membrane. Unlike from normal cells, lipid-free proteins extracted HS membranes fail to increase sedimentation rate when treated with cations; such treatment membrane has been shown by others cause formation microfilaments. That microfilament might be defective is supported observations vinblastine. This compound, a potent precipitant filamentous, structure throughout phylogeny, precipitates significantly less than normal. The resistance changes conformation cations observable at cellular level as well. is, both and cells agglutinate after repeated washing suspension electrolyte-free media. Tiny concentrations Ca++ (5 × 10-5 M) surfaces way disagglutination; resist this change remain agglutinated unless are increased many-fold. We conclude (“structure”) genetically altered interfere their proper conformation, perhaps into fibrils. Potentially many mutations preclude alignment, result erythrocyte biconcavity plasticity prevented clinical syndrome manifest.