Advertisement

Defekte der Erythrozytenmembran als Ursache angeborener hämolytischer Anämien

  • A. Pekrun
  • W. Schröter

Zusammenfassung

Defekte der Erythrozytenmembran sind in Mitteleuropa die häufigste Ursache angeborener hämolytischer Anämien [5, 18, 24]. Ihre Inzidenz beträgt etwa 1:2500. Die wichtigsten Erkrankungen sind die hereditäre Sphärozytose und die hereditäre Elliptozytose. Wesentlich seltener sind die hereditäre Pyropoikilozytose, hereditäre Ovalozytose und hereditäre Stomatozytose. In den vergangenen Jahren wurde mit neu entwickelten Methoden entdeckt, daß diesen Erkrankungen in den meisten Fällen Anomalien einzelner Membranproteine ursächlich zugrundeliegen.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  1. 1.
    Agre, P, Casella, JF, Zinkham, WM, McMillan, C, Bennett, V (1985) Partial deficiency of erythrocyte spectrin in hereditary spherocytosis. Nature 314:380–383PubMedCrossRefGoogle Scholar
  2. 2.
    Beutler, E, West, C, Blum, KG (1976) The removal of leukocytes and platelets from whole blood. J Lab Clin Med 88:328–383PubMedGoogle Scholar
  3. 3.
    Busch, D, Pelz, K (1966) Erythrozytenisolierung aus Blut mit Baumwolle. Klin Wschr 44:983–984PubMedCrossRefGoogle Scholar
  4. 4.
    Costa, FF, Agre, P, Watkins, PC, Winkelmann, JC, Tang, TK, John, KM, Lux, SE, Forget, BG (1990) Linkage of dominant hereditary spherocytosis to the gene for the erythrocyte membrane-skeleton protein ankyrin. New Engl J Med 15:1046–1050CrossRefGoogle Scholar
  5. 5.
    Dacie, J (Hrsg.) (1985) The haemolytic anemias. Churchill Livingstone, Edinburgh, Vol 1Google Scholar
  6. 6.
    Davies, KA, Lux, SE (1989) Hereditary disorders of the red cell membrane skeleton. Trends in Genetics 5:222–227PubMedCrossRefGoogle Scholar
  7. 7.
    Dodge, JT, Mitchell, C, Hanahan, DJ (1963) The preparation and chemical characteristics of hemoglobin free ghosts of human erythrocytes. Arch Biochem Biophys 100:119–130PubMedCrossRefGoogle Scholar
  8. 8.
    Eber, SW, Armbrust, R, Schroter, W (1990) Variable clinical severity of hereditary spherocytosis: Relation to erythrocytic spectrin concentration, osmotic fragility and autohemolysis. J Pediatr 117 (3):409–416PubMedCrossRefGoogle Scholar
  9. 9.
    Eber, SW, Lande, WM, Iarocci, TA, Mentzer, WC, Höhn, P, Wiley, JS, Schröter, W (1989) Hereditary stomatocytosis: consistent association with an integral membrane protein defect. Br J Haematol 72:452–455PubMedCrossRefGoogle Scholar
  10. 10.
    Eber, SW, Morris, SA, Schröter, W, Gratzer, WB (1988) Interactions of spectrin in hereditary elliptocytes containing truncated spectrin β-chains. J Clin Invest 81:523–530PubMedCrossRefGoogle Scholar
  11. 11.
    Evans, JPM, Baines, AJ, Hann, JM, Al-Hakin, J, Knowles, SM, Hoffbrand, AV (1983) Defective spectrin dimer-dimer association in a family with transfusion dependent homozygous hereditary elliptocytosis. Br J Haematol 54:163–172PubMedCrossRefGoogle Scholar
  12. 12.
    Fairbanks, G, Steck, ThL, Wallach, DFH (1971) Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane. Biochemistry 10:2606–2617PubMedCrossRefGoogle Scholar
  13. 13.
    Gratzer, WB (1983) The cytoskeleton of the red blood cell. Muscle and Nonmuscle Motility 2:37–124Google Scholar
  14. 14.
    Laemmli, UK (1970) Cleavage of structural proteins during the assembly of head of bacteriophage T4. Nature 227:680–685PubMedCrossRefGoogle Scholar
  15. 15.
    Liu, SC, Derrick, LH, Palek, J (1987) Visualization of the hexagonal lattice in the erythrocyte membrane skeleton. J Cell Biol 104:527–536PubMedCrossRefGoogle Scholar
  16. 16.
    Low, PS, Willardson, BM, Mohandas, N, Rossi, M, Shohet, S (1991) Contribution of the band 3-ankyrin interaction to erythrocyte membrane mechanical stability. Blood 77:1581–1586PubMedGoogle Scholar
  17. 17.
    Lux, SE, Tse, WT, Menninger, JC, John, KM, Harris, P, Shalev, O, Chilcote, RR, Marchesi, SL, Watkins, PC, Bennett, V, Mcintosh, S, Collins, FS, Francke, U, Ward, DC, Forget, BG (1990) Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8. Nature 345:736–739.PubMedCrossRefGoogle Scholar
  18. 18.
    Palek, J, Sahr, KE (1992) Mutations of the red blood cell membrane proteins: from clinical evaluation to detection of the underlying genetic defect. Blood 80:308–330PubMedGoogle Scholar
  19. 19.
    Parpart, AK, Lorenz, PB, Parpart, EG, Gregg, JR, Chase, AM (1947) The osmotic resistance (fragility) of human red cells. J Clin Invest 26:636–640CrossRefGoogle Scholar
  20. 20.
    Pekrun, A, Eber, SW, Kuhlmey, A, Schroter, W (1993) Combined ankyrin and spectrin deficiency in hereditary spherocytosis. Ann Hematol 67:89–93PubMedCrossRefGoogle Scholar
  21. 21.
    Pekrun, A, Gratzer, WB (1990) Disorders of the red cell membrane. Current Opinion in Pediatrics 2:116–120CrossRefGoogle Scholar
  22. 22.
    Pinder, JC (1991) Red cell membrane cytoskeleton and the control of membrane properties. Biochem Soc Trans 19:1039–1041PubMedGoogle Scholar
  23. 23.
    Pinder, JC, Smith, KS, Pekrun, A, Gratzer WB (1989) Preparation and properties of human red- cell ankyrin. J Biochem 264:423–428Google Scholar
  24. 24.
    Schröter, W, Eber, SW (1989) Molekulare Pathologie der Erythrozytenmembran. Monatsschr Kinderheilkd 137:368–379PubMedGoogle Scholar
  25. 25.
    Steck, TL (1974) The organization of proteins in the human red cell membrane. J Cell Biol 62:1–19PubMedCrossRefGoogle Scholar
  26. 26.
    Ungewickell, E, Gratzer, WB (1978) Self association of spectrin. A thermodynamic and kinetic study. Eur J Biochem 88:379–385PubMedCrossRefGoogle Scholar
  27. 27.
    Young, LE, Izzo, MJ, Swisher, SN (1956) Studies on spontaneous in vitro autohemolysis in hemolytic disorders. Blood 11:977–978PubMedGoogle Scholar
  28. 28.
    Zacharius, RM, Zell, TE, Morrison, JH, Woodlock, JJ (1969) Glycoprotein staining following electrophoresis on acrylamide gels. Anal Biochem 30:148–152PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1994

Authors and Affiliations

  • A. Pekrun
  • W. Schröter

There are no affiliations available

Personalised recommendations