Gangliosides, sialoglycoproteins and glucocerebroside in the spleen and bone marrow of patients with β-thalassemia major

  • Guidalberto Fabris
  • Italo Bearzi
  • Carlo Alberto Beltrami
  • Donatella Primi
  • Silvia Di Palma
  • Bruno Berra
Original Contributions


Bone marrow and spleen samples were studied biochemically to elucidate the nature of the material stored in the large histiocytes present in β-thalassemic patients. Only the protein-bound N-acetylneuraminic acid (NANA) content of the spleen of homozygous β-thalassemic patients was significantly higher than that of controls. In the bone marrow, which contained a large number of thalassemic storage cells, the lipid-bound NANA and the glucocerebroside showed a moderate increase, while the amount of protein-bound NANA was much greater than that in controls. These results, in agreement with ultrastructural and histochemical observations, differentiate thalasseminc storage cells from other storage cells found in diseases characterized by an increased destruction of blood cells and suggest that there may also be an impairment of the sialoglycoprotein metabolism of the red blood cells in homozygous β-thalassemia.


β-thalassemia Bone marrow Gangliosides Glucocerebroside Sialoglycoproteins Spleen Thalassemic storage cells 


  1. 1.
    Bearzi I., Fabris G., Beltrami C. A., Galvano C.: Ulteriore contributo alla conoscenza ultrastruturale della milza cooleyana.—Riv. Pat. clin. sper.10, 251, 1969.Google Scholar
  2. 2.
    Beltrami C. A., Bearzi I., Fabris G.: Storage cells of spleen and bone marrow in thalassemia: an ultrastructural study—Blood41, 901, 1973.PubMedGoogle Scholar
  3. 3.
    Brunngraber E. G., Tettamanti G., Berra B.: Extraction and analysis of materials containing lipid-bound sialic acid—In:Witting L. A. (Ed.): Glycolipid methodology. American Oil Chemists' Society, 1976; p. 159.Google Scholar
  4. 4.
    Eylar E. H., Matioli G. T.: Glycoprotein biosynthesis in human reticulocytes: a lesion in thalassemia—Science147, 869, 1969.CrossRefGoogle Scholar
  5. 5.
    Fabris G., Bearzi I., Beltrami C. A.: Aspetti ultrastrutturali delle grosse cellule istiocitarie PAS positive della milza cooleyana—Riv. Pat. clin. sper.10, 5, 1969.Google Scholar
  6. 6.
    Gordon G. B., Hyun B. H., Kuhn M. L.: Ultrastructure of the foam cell in thalassemia—Amer. J. Path.55, 57a, 1969.Google Scholar
  7. 7.
    Mariuzzi G. M., Lanza C.: Istiotesaurismosi glicoproteica splenomidollare nel morbo di Cooley (studio istochimico e morfogenetico)—Riv. Pat. clin. sper.7, 423, 1966.Google Scholar
  8. 8.
    Miettinen T., Takki Lukkainen I. T.: Use of butylacetate in determination of sialic acid— Acta chem. scand.13, 856, 1959.CrossRefGoogle Scholar
  9. 9.
    Nunnari A., Calafato M., Lo Certo P.: L'acido sialico nelle emazie di soggetti normali e talassemici—Boll. Soc. ital. Biol. sper.39, 814, 1963.PubMedGoogle Scholar
  10. 10.
    Rachmilewitz E. A., Lubin B. H., Shohet S. B.: Lipid membrane peroxidation in β-thalassemia major—Blood47, 495, 1976.PubMedGoogle Scholar
  11. 11.
    Scala C.: Un nuovotest di normalità—Stidi di mercato12, 287, 1966.Google Scholar
  12. 12.
    Sen Gupta P. C., Chatterjee J. B., Mukherjee A. M., Chatterjee A.: Observations on the foam cell in thalassemia—Blood16, 1039, 1960.PubMedGoogle Scholar
  13. 13.
    Svennerholm L.: Quantitative estimation of sialic acid. II. A colorimetric resorcinol-hydrochloric acid method—Biochim. biophys. Acta (Amst.)24, 604, 1957.CrossRefGoogle Scholar
  14. 14.
    Tettamanti G., Bonali F., Marchesini S., Zambotti V.: A new procedure for the extraction, purification and fractionation of brain ganglioside—Biochim. biophys. Acta (Amst.)296, 160, 1973.Google Scholar
  15. 15.
    Vance D. E., Sweeley C. C.: Quantitative determination of the neutral glycosyl-ceramides in human blood—J. Lipid Res.8, 621, 1967.PubMedGoogle Scholar
  16. 16.
    Warren L.: The thiobarbituric acid assay of sialic acid—J. biol. Chem.234, 1971, 1959.PubMedGoogle Scholar
  17. 17.
    Whipple G. H., Bradford W. L.: Racial or familial anemia of children associated with fundamental disturbances of bone and pigment metabolism (Cooley-von Jaksch)—Amer. J. Dis. Child.44, 336, 1932.Google Scholar
  18. 10.
    Winzler R. J.: Glycoproteins of plasma membranes. Chemistry and function—In:Gottschalk A. (Ed.): Glycoproteins. Their composition, structure and function. Elsevier, Amsterdam, 1972; part B, p. 1268.Google Scholar
  19. 19.
    Zaino E. C., Rossi M. B.: Ultrastructure of the erythrocytes in β-thalassemia—Ann. N.Y. Acad. Sci.232, 238, 1974.PubMedCrossRefGoogle Scholar
  20. 20.
    Zaino E. C., Rossi M. B., Tuan Duc Pham, Azar H. A.: Gaucher's cells in thalassemia —Blood38, 457, 1971.PubMedGoogle Scholar
  21. 21.
    Zanetta P. G., Breckenridge W. C., Vincendon G.: Analysis of monosaccharides by gas-liquid chromatography of the 0-methyl-glycosides as trifluoroacetate derivative application to glycoproteins and glycolipids—J. Chromatography69, 291, 1972.CrossRefGoogle Scholar

Copyright information

© Springer-Verlag 1978

Authors and Affiliations

  • Guidalberto Fabris
    • 1
  • Italo Bearzi
    • 1
  • Carlo Alberto Beltrami
    • 1
  • Donatella Primi
    • 2
  • Silvia Di Palma
    • 2
  • Bruno Berra
    • 2
  1. 1.Istituto di Anatomia ed Istologia Patologica dell'Università degli Studi di FerraraFerraraItaly
  2. 2.Cattedra di BiochimicaFacoltà di Farmacia dell'Università degli Studi di MilanoMilanoItaly

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