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Abnormality of erythrocyte membrane protein in a case of congenital stomatocytosis

Proteinanomalie in der Erythrozytenmembran bei einem Fall von congenitaler Stomatozytose

Zusammenfassung

Mit einer neuen Methode zur Analyse von Membranproteinen gelang der Nachweis einer Membranproteinanomalie in den Erythrozyten eines Patienten mit congenitaler Stomatozytose; einer chronischen hämolytischen Anämie, die durch pathologische intraerythrozytäre Kationenkonzentrationen infolge Membranpermeabilitätsstörungen und durch becherförmige Erythrozyten im peripheren Blutbild charakterisiert ist. Die Auftrennung der Proteine erfolgt durch eine Kombination von isoelektrischer Fokusierung und nachfolgender Elektrophorese in Polyacrylamidgel. Das abnorme Protein besitzt einen isoelektrischen Punkt bei pH 4,5 und ein Molekulargewicht von etwa 25 000.

Summary

A new method of membrane protein analysis was used to demonstrate an crythrocyte membrane protein anomaly. Our approach employed electrofocusing linked to sodiumdodecylsulfate polyacrylamide gel electrophoresis. We observed an aberrant protein, isoelectric at approximately pH 4.5 with an apparent molecular weight of approximately 25,000 in membrane preparations from a patient with congenital stomatocytosis. This protein has not been observed in any healthy donor examined to date.

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References

  1. 1.

    Bhakdi, S., Knüfermann, H., Wallach, D.F.H.: Separation of EDTA-extractable erythrocyte membrane proteins by isoelectric focusing linked to electrophoresis in sodium dodecylsulfate. Biochim. biophys. Acta345, 448 (1974)

    Google Scholar 

  2. 2.

    Bhakdi, S., Knüfermann, H., Wallach, D.F.H.: Separation of hydrophobic membrane proteins by isoelectric focusing linked to dodecylsulfate electrophoresis. In ‘Progress in Isoelectric Focusing and Isotachophoresis’ (P.G. Righetti, Ed.), p. 281, North-Holland Publishing Company (1975)

    Google Scholar 

  3. 3.

    Bhakdi, S., Knüfermann, H., Wallach, D.F.H.: Two-dimensional separation of membrane proteins. Biochim. biophys. Acta294, 550 (1975)

    Google Scholar 

  4. 4.

    Bienzle, U., Niethammer, D., Kleeberg, U., Ungefehr, K., Kohne, E., Kleihauer, E.: Congenital somatocytosis and chronic haemolytic anaemia. Scand. J. Haemat.15, 339 (1975)

    PubMed  Google Scholar 

  5. 5.

    Fairbanks, G., Steck, L.T., Wallach, D.F.H.: Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane. Biochemistry10, 1606 (1971)

    Article  Google Scholar 

  6. 6.

    Gomperts, E.D., Metz, J., Zail, S.S.: A red cell membrane protein abnormality in hereditary spherocytosis. Brit. J. Haemat.23, 363 (1972)

    PubMed  Google Scholar 

  7. 7.

    Gomperts, E.D., Cayannis, F., Metz, J., Zail, S.S.: A red cell membrane protein abnormality in hereditary elliptocytosis. Brit. J. Haemat.25, 415 (1973)

    PubMed  Google Scholar 

  8. 8.

    Gomperts, E.D., Metz, J., Zail, S.S.: Red cell membrane protein in antibody induced haemolytic anaemia. Brit. J. Haemat.25, 421 (1973)

    PubMed  Google Scholar 

  9. 9.

    Hulla, F.W.: Absence of subunits in high-molecular weight proteins (spectrin) of red cell membranes. Biochim. biophys. Acta345, 430 (1974)

    Google Scholar 

  10. 10.

    Jacob, H.S., Ruby, A., Overland, E.S., Mazia, D.: Abnormal membrane protein of red blood cells in hereditary spherocytosis. J. clin. Invest.50, 1800 (1971)

    PubMed  Google Scholar 

  11. 11.

    Jacob, H.S., Amsden, T., White, J.: Membrane microfilaments of erythrocytes: Alteration in intact cells reproduces the hereditary spherocytosis syndrome. Proc. nat. Acad. Sci. (Wash.)69, 471 (1972)

    PubMed  Google Scholar 

  12. 12.

    Kitao, T., Kawamura, H., Hattori, K., Takeshita, M.: Haemolytic anaemia with abnormal membrane protein. Clin. chim. Acta47, 319 (1973)

    Article  PubMed  Google Scholar 

  13. 13.

    Limber, G.K., Davis, R.F., Bakerman, S.: Acrylamide gel electrophoresis studies of human erythrocyte membrane. Blood36, 111 (1970)

    PubMed  Google Scholar 

  14. 14.

    Lock, S.P., Smith, R.S., Hardisty, R.M.: Stomatocytosis: A hereditary red cell anomaly associated with haemolytic anaemia. Brit. J. Haemat.7, 303 (1961)

    PubMed  Google Scholar 

  15. 15.

    Marchesi, V.T., Steers, E., Tillack, T.W., Marchesi, S.L.: Some properties of spectrin. In ‘The Red Cell Membrane, Structure and Function’ (Jamieson, G.A. and Greenwald, T.J., eds.), p. 117. Philadelphia: J.B. Lippincott Co. 1969

    Google Scholar 

  16. 16.

    Miller, D.R., Rickles, F.R., Lightman, M.A., La Celle, P.L., Bates, J., Weed, R.I.: A new variant of hereditary hemolytic anemia with stomatocytosis and erythrocyte cation abnormality. Blood38, 184 (1971)

    PubMed  Google Scholar 

  17. 17.

    Oski, F.A., Naiman, J.L., Blum, S.F., Zarkowsky, H.S., Whaun, J., Shohet, S.B., Green, A., Nathan, D.G.: Congenital hemolytic anemia with high-sodium, low-potassium red cells. New Engl. J. Med.280, 909 (1969)

    PubMed  Google Scholar 

  18. 18.

    Righetti, P.G., Perella, M., Zanella, A., Sirchia, G.: The membrane abnormality of the red cell in paroxysmal nocturnal haemoglobinuria. Nature New Biol.245, 273 (1973)

    PubMed  Google Scholar 

  19. 19.

    Weber, K., Osborn, M.J.: The reliability of molecular weight determinations by dodecylsulfate polyacrylamide gel electrophoresis. J. biol. Chem.244, 4406 (1969)

    PubMed  Google Scholar 

  20. 20.

    Wiley, J.S., Ellroy, J.C., Shuman, M.A., Shaller, C.C., Cooper, R.A.: Characteristics of the membrane defect in the hereditary stomatocytosis syndrome. Blood46, 337 (1975)

    PubMed  Google Scholar 

  21. 21.

    Zarkowsky, H.S., Oski, F.A., Sha'afi, R., Shohet, S.B., Nathan, D.G.: Congenital hemolytic anemia with high sodium, low-potassium red cells. New Engl. J. Med.278, 573 (1968)

    PubMed  Google Scholar 

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Bienzle, U., Bhadki, S., Knüfermann, H. et al. Abnormality of erythrocyte membrane protein in a case of congenital stomatocytosis. Klin Wochenschr 55, 569–572 (1977). https://doi.org/10.1007/BF01490509

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Schlüsselwörter

  • Congenitale Stomatozytose
  • Chronische hämolytische Anämie
  • Erythrozytenmembranproteinanomalie

Key words

  • Congenital stomatocytosis
  • Chronic haemolytic anaemia
  • Erythrocyte membrane protein anomaly