Abnormal membrane protein of red blood cells in hereditary spherocytosis

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Abnormal membrane protein of red blood cells in hereditary spherocytosis.

We present evidence that the hereditable hemolytic disease, hereditary spherocytosis (HS), involves an abnormality in protein of the red cell membrane. Unlike that from normal red cells, lipid-free proteins extracted from HS red cell membranes fail to increase in sedimentation rate when treated with cations; such treatment of normal membrane proteins has been shown by others to cause the format...

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Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutations in genes encoding various red cell membrane and skeletal proteins. Red cell membrane, a composite structure composed of lipid bilayer linked to spectrin-based membrane skeleton is responsible for the unique features of flexibility and mechanical stability of the cel...

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The role of membrane lipids in the survival of red cells in hereditary spherocytosis.

Red cells in hereditary spherocytosis (HS) have a decreased ratio of membrane surface area to cell volume and therefore a spheroidal shape. This abnormality in shape predisposes them to pooling and destruction in the spleen. Although splenectomy prevents hemolysis in HS, the red cell defect, as manifested by spheroidicity, increased autohemolysis, excesive permeability to sodium, and hypermetab...

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Red Cell Membrane Protein Abnormalities of A Family with Hereditary Spherocytosis in Adana

295 Abstract: To investigate erythrocyte membrane protein abnormalities in Çukurova region we studied a family observed to be hereditary spherocytosis. Diagnosis was made basis of clinical features. By densitometric tracing of SDS-PAGE stained by Coomassie Brillant Blue, we found two spectrin deficiency, one ankyrin deficeiency, two spectrin-band 3 deficiency, one ankyrin-band 3 deficiency and ...

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The role of membrane phosphatides in transport processes has been investigated in red cells from splenectomized patients with hereditary spherocytosis (HS). Incorporation of inorganic (32)phosphate into the membrane phosphatides of HS red cells was approximately twice normal, coinciding with the nearly twofold increment in flux of sodium ions in the cells.A consistent, inordinate increase in sp...

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ژورنال

عنوان ژورنال: Journal of Clinical Investigation

سال: 1971

ISSN: 0021-9738

DOI: 10.1172/jci106670