1ST OBSERVATION OF A MEMBRANE-PROTEIN DEFICIENCY (BAND 41) IN A CASE OF HEREDITARY ELLIPTOCYTOSIS

  • 1 January 1980
    • journal article
    • research article
    • Vol. 22  (4) , 315-325
Abstract
In 4 members of a family presenting with hereditary elliptocytosis, erythrocytes were studied, membranes were extracted and proteins were analyzed by gel electrophoresis in a polyacrylamide gradient. In 1 of the patients suffering from severe hemolytic anemia successfully treated by splenectomy, an almost complete deficiency in band 41 was discovered. Endogenous protein kinase activities revealed the absence of radioactivity of band 41 in the proband, a result not modified by cAMP. The kinase activity was normal in the parents, which confirms the almost complete absence of protein 41 seen in the stained gel of the proband. A moderate increase in the phosphorylation of band 3 was observed in all members of this family. Deformability was measured by a visco-diffractometric method in a medium of low viscosity, allowing the recording of curves characteristic of elliptocytosis and revealing a markedly reduced deformability index (DI). At low shear stress, elliptocytes were oriented perpendicular to the flow (a result common to all elliptocytosis). In the proband several years after splenectomy, the DI was extremely reduced at high shear stress, which can be explained by the simultaneous presence of elliptocytes, schizocytes and spherocytes. A more detailed comparative study of the proteins of the various members of the family could lead to more precise information on the possible role of band 41 as a linkage protein maintaining the erythrocyte membrane stability.

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