[Erythrocyte membrane protein abnormalities in hereditary hemolytic anemias].
The structural and functional abnormalities of erythrocyte membrane proteins in hereditary hemolytic anemias are reviewed. The authors stress the problems of protein solubilization and the artefacts of the sodium dodecylsulphate polyacrylamide gel electrophoresis; protein abnormalities observed with that method are inconstant and non-specific. Abnormal "spectrin" has been reported in hereditary spherocytosis: however analysis of purified spectrin peptides by isoelectric focusing in 8M urea did not reveal any difference between normal and hereditary spherocytosis spectrin. Deficient autophosphorylation of erythrocyte membrane proteins by endogenous membrane protein-kinases 3'5-cyclic-AMP dependent and independent was pointed out in hereditary spherocytosis and stomatocytosis: the authors' experience was contrary to such results: quantitatively and qualitatively normal activity of membrane protein-kinase was found in five cases of hereditary spherocytosis. The authenticity, frequency and specificity of the various membrane protein abnormalities reported so far, are not firmly established. Many insufficiently verified results published prematurely have been later denied. To date no membrane protein anomaly may be considered as a biochemical cause of any type of hereditary hemolytic anemia.
D000745:Anemia, Hemolytic, Congenital / Q000097:blood*; D001798:Blood Proteins / Q000032:analysis*; D002118:Calcium / Q000378:metabolism; D000242:Cyclic AMP / Q000494:pharmacology; D004591:Electrophoresis, Polyacrylamide Gel; D004612:Elliptocytosis, Hereditary / Q000097:blood; D004705:Endocytosis; D004910:Erythrocyte Membrane / Q000032:analysis*; D004912:Erythrocytes / Q000032:analysis*; D007525:Isoelectric Focusing; D010085:Oxidative Phosphorylation; D012995:Solubility; D013049:Spectrin / Q000032:analysis; D013103:Spherocytosis, Hereditary / Q000097:blood
D001798:Blood Proteins; D013049:Spectrin; D000242:Cyclic AMP; D002118:Calcium
Anomalies des protéines de la membrane érythrocytaire au cours des anémies hémolytiques congénitales.