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MeSH Review

Elliptocytosis, Hereditary

 
 
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Disease relevance of Elliptocytosis, Hereditary

 

High impact information on Elliptocytosis, Hereditary

  • Molecular basis of hereditary elliptocytosis due to protein 4.1 deficiency [5].
  • We here analyze the molecular basis of heterozygous 4.1(-) hereditary elliptocytosis, associated with protein 4.1 partial deficiency, in nine related French families. cDNA sequencing revealed a single codon deletion (AAA) resulting in a lysine residue deletion within the 10-kD binding domain, 3' of Motif I [6].
  • alpha I/74 hereditary elliptocytosis (HE) is a subgroup of HE in which patients exhibit an impaired self-association of spectrin dimers and an abnormal proteolytic cleavage of the alpha I domain of spectrin [7].
  • To explain the transient anemia and poikilocytosis seen during infancy in hereditary elliptocytosis (HE), we resealed erythrocyte (RBC) ghosts from affected children or their elliptocytic parents with 2,3-diphosphoglycerate (DPG) (0-8 mM), a compound that dissociates membrane skeletons, then measured ghost mechanical stability in the ektacytometer [8].
  • Defective binding of spectrin to ankyrin in a kindred with recessively inherited hereditary elliptocytosis [9].
 

Chemical compound and disease context of Elliptocytosis, Hereditary

 

Biological context of Elliptocytosis, Hereditary

 

Anatomical context of Elliptocytosis, Hereditary

 

Gene context of Elliptocytosis, Hereditary

References

  1. Defective spectrin integrity and neonatal thrombosis in the first mouse model for severe hereditary elliptocytosis. Wandersee, N.J., Roesch, A.N., Hamblen, N.R., de Moes, J., van der Valk, M.A., Bronson, R.T., Gimm, J.A., Mohandas, N., Demant, P., Barker, J.E. Blood (2001) [Pubmed]
  2. Neurobehavioral deficits in mice lacking the erythrocyte membrane cytoskeletal protein 4.1. Walensky, L.D., Shi, Z.T., Blackshaw, S., DeVries, A.C., Demas, G.E., Gascard, P., Nelson, R.J., Conboy, J.G., Rubin, E.M., Snyder, S.H., Mohandas, N. Curr. Biol. (1998) [Pubmed]
  3. Genetic disorders of the red cell membranes. Delaunay, J. FEBS Lett. (1995) [Pubmed]
  4. Hemoglobinopathies, G6PD deficiency, and hereditary elliptocytosis in Bahrain. Dash, S. Hum. Biol. (2004) [Pubmed]
  5. Molecular basis of hereditary elliptocytosis due to protein 4.1 deficiency. Conboy, J., Mohandas, N., Tchernia, G., Kan, Y.W. N. Engl. J. Med. (1986) [Pubmed]
  6. Protein 4.1 deficiency associated with an altered binding to the spectrin-actin complex of the red cell membrane skeleton. Lorenzo, F., Dalla Venezia, N., Morlé, L., Baklouti, F., Alloisio, N., Ducluzeau, M.T., Roda, L., Lefrançois, P., Delaunay, J. J. Clin. Invest. (1994) [Pubmed]
  7. Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association. Tse, W.T., Lecomte, M.C., Costa, F.F., Garbarz, M., Feo, C., Boivin, P., Dhermy, D., Forget, B.G. J. Clin. Invest. (1990) [Pubmed]
  8. Modulation of erythrocyte membrane mechanical stability by 2,3-diphosphoglycerate in the neonatal poikilocytosis/elliptocytosis syndrome. Mentzer, W.C., Iarocci, T.A., Mohandas, N., Lane, P.A., Smith, B., Lazerson, J., Hays, T. J. Clin. Invest. (1987) [Pubmed]
  9. Defective binding of spectrin to ankyrin in a kindred with recessively inherited hereditary elliptocytosis. Zail, S.S., Coetzer, T.L. J. Clin. Invest. (1984) [Pubmed]
  10. Defective spectrin dimer-dimer association with hereditary elliptocytosis. Liu, S.C., Palek, J., Prchal, J.T. Proc. Natl. Acad. Sci. U.S.A. (1982) [Pubmed]
  11. Effect of brilliant cresyl blue on erythrocytes in hereditary elliptocytosis. Inwood, M.J., Thomson, S., Harris, P. Am. J. Hematol. (1983) [Pubmed]
  12. Beta-thalassaemia mutations in west Malaysia: a new thalassaemia clinical score system. George, E. Ann. Acad. Med. Singap. (1994) [Pubmed]
  13. Diffusion of a particular 4.1(-) hereditary elliptocytosis allele in the French Northern Alps. Brunet, G., Ducluzeau, M.T., Roda, L., Lefrancois, P., Baklouti, F., Delaunay, J., Robert, J.M. Journal of biosocial science. (1993) [Pubmed]
  14. Elliptical erythrocyte membrane skeletons and heat-sensitive spectrin in hereditary elliptocytosis. Tomaselli, M.B., John, K.M., Lux, S.E. Proc. Natl. Acad. Sci. U.S.A. (1981) [Pubmed]
  15. Atypical hereditary ovalocytosis associated with defective dyserythropoietic anemia. Jankovic, M., Sansone, G., Conter, V., Iolascon, A., Masera, G. Acta Haematol. (1993) [Pubmed]
  16. Mild spherocytic hereditary elliptocytosis and altered levels of alpha- and gamma-adducins in beta-adducin-deficient mice. Muro, A.F., Marro, M.L., Gajović, S., Porro, F., Luzzatto, L., Baralle, F.E. Blood (2000) [Pubmed]
  17. Molecular basis of red cell membrane disorders. Delaunay, J. Acta Haematol. (2002) [Pubmed]
  18. Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. II. Determination of molecular genetic origins of rearrangements. Conboy, J., Marchesi, S., Kim, R., Agre, P., Kan, Y.W., Mohandas, N. J. Clin. Invest. (1990) [Pubmed]
  19. Evidence that red blood cell protein p55 may participate in the skeleton-membrane linkage that involves protein 4.1 and glycophorin C. Alloisio, N., Dalla Venezia, N., Rana, A., Andrabi, K., Texier, P., Gilsanz, F., Cartron, J.P., Delaunay, J., Chishti, A.H. Blood (1993) [Pubmed]
  20. Mutation at position -12 of intron 45 (c-->t) plays a prevalent role in the partial skipping of exon 46 from the transcript of allele alphaLELY in erythroid cells. Wilmotte, R., Marechal, J., Delaunay, J. Br. J. Haematol. (1999) [Pubmed]
 
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