메뉴 건너뛰기




Volumn 35, Issue 3, 2013, Pages 237-243

Hereditary red cell membrane disorders and laboratory diagnostic testing

Author keywords

Acid glycerol lysis time test; Eosin 5 maleimide binding; Hereditary pyropoikilocytosis; Hereditary spherocytosis; Hereditary stomatocytosis

Indexed keywords

ERYTHROCYTE BAND 4.1 PROTEIN; MEMBRANE PROTEIN; PROTEIN VARIANT; SPECTRIN;

EID: 84876495957     PISSN: 17515521     EISSN: 1751553X     Source Type: Journal    
DOI: 10.1111/ijlh.12070     Document Type: Review
Times cited : (95)

References (35)
  • 1
    • 0027396613 scopus 로고
    • Defining the architecture of the red blood cell membrane: new biophysical approaches
    • Shohet S, Bicknese SE. Defining the architecture of the red blood cell membrane: new biophysical approaches. Am J Hematol 1993;42:19-24.
    • (1993) Am J Hematol , vol.42 , pp. 19-24
    • Shohet, S.1    Bicknese, S.E.2
  • 2
    • 0030222116 scopus 로고    scopus 로고
    • Cell surface organization by the membrane skeleton
    • Kusumi A, Sako Y. Cell surface organization by the membrane skeleton. Cur Opin Cell Biol 1996;8:566-74.
    • (1996) Cur Opin Cell Biol , vol.8 , pp. 566-574
    • Kusumi, A.1    Sako, Y.2
  • 3
    • 58149158216 scopus 로고    scopus 로고
    • Red cell membrane: past, present and future
    • Mohandas N, Gallagher PG. Red cell membrane: past, present and future. Blood 2008;112:3939-48.
    • (2008) Blood , vol.112 , pp. 3939-3948
    • Mohandas, N.1    Gallagher, P.G.2
  • 5
    • 0036176187 scopus 로고    scopus 로고
    • New insights into regulation of erythrocyte shape
    • Nakao M. New insights into regulation of erythrocyte shape. Cur Opin Hematol 2002;9:127-32.
    • (2002) Cur Opin Hematol , vol.9 , pp. 127-132
    • Nakao, M.1
  • 6
    • 84876475143 scopus 로고
    • Cellular and molecular biology of the RBC membranes and its disorders II, III, and IV
    • Guest Editor).85-137, 169-92.
    • Palek J. (Guest Editor). Cellular and molecular biology of the RBC membranes and its disorders II, III, and IV. Sem Hematol 1993;30:1-83, 85-137, 169-92.
    • (1993) Sem Hematol , vol.30 , pp. 1-83
    • Palek, J.1
  • 7
    • 84870444224 scopus 로고    scopus 로고
    • Clinical aspects and pathogenesis of congenital dyserythropoietic anaemias: from morphology to molecular approach
    • Iolascon A, Esposito MR, Russo R. Clinical aspects and pathogenesis of congenital dyserythropoietic anaemias: from morphology to molecular approach. Haematologica 2012;97:1786-94.
    • (2012) Haematologica , vol.97 , pp. 1786-1794
    • Iolascon, A.1    Esposito, M.R.2    Russo, R.3
  • 8
    • 9644257229 scopus 로고    scopus 로고
    • A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I
    • Shalev H, Kapelushnik J, Moser A, Dgany O, Krasnov T, Tamary H. A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I. J Pediatr Hematol Oncol 2004;26:746-8.
    • (2004) J Pediatr Hematol Oncol , vol.26 , pp. 746-748
    • Shalev, H.1    Kapelushnik, J.2    Moser, A.3    Dgany, O.4    Krasnov, T.5    Tamary, H.6
  • 9
    • 77953181504 scopus 로고    scopus 로고
    • The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells
    • Heimpel H, Kellermann K, Neuschwander N, Ho J, Schwarz K. The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells. Haematologica 2010;95:1034-6.
    • (2010) Haematologica , vol.95 , pp. 1034-1036
    • Heimpel, H.1    Kellermann, K.2    Neuschwander, N.3    Ho, J.4    Schwarz, K.5
  • 10
    • 60849116982 scopus 로고    scopus 로고
    • The monovalent cation leak in over-hydrated stomatocytic red blood cells results from amino acid substitutions in the Rh associated glycoprotein (RhAG)
    • Bruce LJ, Guizouarn H, Burton NM, Gabillat N, Poole J, Flatt JF, Brady RL, Borgese F, Delaunay J, Stewart G. The monovalent cation leak in over-hydrated stomatocytic red blood cells results from amino acid substitutions in the Rh associated glycoprotein (RhAG). Blood 2009;113:1350-7.
    • (2009) Blood , vol.113 , pp. 1350-1357
    • Bruce, L.J.1    Guizouarn, H.2    Burton, N.M.3    Gabillat, N.4    Poole, J.5    Flatt, J.F.6    Brady, R.L.7    Borgese, F.8    Delaunay, J.9    Stewart, G.10
  • 11
    • 80053495779 scopus 로고    scopus 로고
    • Band 3 missense mutations and stomatocytosis: insight into the molecular mechanism responsible for monovalent cation leak
    • Barneaud-Rocca D, Pellissier B, Borgese F, Guizouarn H. Band 3 missense mutations and stomatocytosis: insight into the molecular mechanism responsible for monovalent cation leak. Int J Cell Biol 2011;2011:136802.
    • (2011) Int J Cell Biol , vol.2011 , pp. 136802
    • Barneaud-Rocca, D.1    Pellissier, B.2    Borgese, F.3    Guizouarn, H.4
  • 13
    • 4344677016 scopus 로고    scopus 로고
    • Hemolytic disease due to membrane ion channel disorders
    • Stewart GW. Hemolytic disease due to membrane ion channel disorders. Curr Opin Hematol 2004;11:244-50.
    • (2004) Curr Opin Hematol , vol.11 , pp. 244-250
    • Stewart, G.W.1
  • 14
    • 1942541308 scopus 로고    scopus 로고
    • The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations
    • Delaunay J. The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations. Sem Hematol 2004;41:165-72.
    • (2004) Sem Hematol , vol.41 , pp. 165-172
    • Delaunay, J.1
  • 15
    • 1942509531 scopus 로고    scopus 로고
    • Hereditary spherocytosis - defects in proteins that connect the membrane skeleton to the lipid bilayer
    • Eber S, Lux SE. Hereditary spherocytosis - defects in proteins that connect the membrane skeleton to the lipid bilayer. Sem Hematol 2004;41:118-41.
    • (2004) Sem Hematol , vol.41 , pp. 118-141
    • Eber, S.1    Lux, S.E.2
  • 16
    • 0030231133 scopus 로고    scopus 로고
    • Red cell abnormalities in hereditary spherocytosis: relevance to diagnosis and understanding of the variable expression of clinical severity
    • Cynober T, Mohandas N, Tchernia G. Red cell abnormalities in hereditary spherocytosis: relevance to diagnosis and understanding of the variable expression of clinical severity. Lab Clin Med 1996;128:259-69.
    • (1996) Lab Clin Med , vol.128 , pp. 259-269
    • Cynober, T.1    Mohandas, N.2    Tchernia, G.3
  • 17
    • 1942445176 scopus 로고    scopus 로고
    • Hereditary elliptocytosis: spectrin and protein 4.1R
    • Gallagher PG. Hereditary elliptocytosis: spectrin and protein 4.1R. Sem Hematol 2004;41:142-64.
    • (2004) Sem Hematol , vol.41 , pp. 142-164
    • Gallagher, P.G.1
  • 18
    • 0030802681 scopus 로고    scopus 로고
    • Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression
    • Silveira P, Cynober T, Dhermy D, Mohandas D, Tchernia G. Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression. Am J Clin Pathol 1997;108:391-9.
    • (1997) Am J Clin Pathol , vol.108 , pp. 391-399
    • Silveira, P.1    Cynober, T.2    Dhermy, D.3    Mohandas, D.4    Tchernia, G.5
  • 19
    • 0030879136 scopus 로고    scopus 로고
    • Membrane cation and anion transport activities in erythrocytes of hereditary spherocytosis: effects of different membrane protein defects
    • De Franceschi L, Olivieri O, Miraglia del Giudice E, Perrotta S, Sabato V, Corrocher R, Iolascon A. Membrane cation and anion transport activities in erythrocytes of hereditary spherocytosis: effects of different membrane protein defects. Am J Hematol 1997;55:121-8.
    • (1997) Am J Hematol , vol.55 , pp. 121-128
    • De Franceschi, L.1    Olivieri, O.2    Miraglia del Giudice, E.3    Perrotta, S.4    Sabato, V.5    Corrocher, R.6    Iolascon, A.7
  • 20
    • 0034789430 scopus 로고    scopus 로고
    • Red cell membrane Na+ transport systems in hereditary spherocytosis: relevance to understanding the increased Na+ permeability
    • Vives Corrons JL, Besson I. Red cell membrane Na+ transport systems in hereditary spherocytosis: relevance to understanding the increased Na+ permeability. Ann Hematol 2001;80:535-9.
    • (2001) Ann Hematol , vol.80 , pp. 535-539
    • Vives Corrons, J.L.1    Besson, I.2
  • 23
    • 0001537265 scopus 로고
    • Stomatocytosis: a hereditary red cell anomaly associated with haemolytic anaemia
    • Lock SP, Smith RS, Hardistry RM. Stomatocytosis: a hereditary red cell anomaly associated with haemolytic anaemia. Br J Haematol 1961;7:303-14.
    • (1961) Br J Haematol , vol.7 , pp. 303-314
    • Lock, S.P.1    Smith, R.S.2    Hardistry, R.M.3
  • 26
  • 27
    • 0034494630 scopus 로고    scopus 로고
    • Rapid flow cytometric test for the diagnosis of membrane cytoskeleton- associated haemolytic anaemia
    • King M-J, Behrens J, Rogers C, Flynn C, Greenwood D, Chambers K. Rapid flow cytometric test for the diagnosis of membrane cytoskeleton- associated haemolytic anaemia. Br J Haematol 2000;111:924-33.
    • (2000) Br J Haematol , vol.111 , pp. 924-933
    • King, M.-J.1    Behrens, J.2    Rogers, C.3    Flynn, C.4    Greenwood, D.5    Chambers, K.6
  • 28
    • 84876500003 scopus 로고    scopus 로고
    • Hemolytic anemias associated with disorders of erythrocyte membrane and cytoskeleton proteins
    • Kottke-Marchant K, Davis B. (eds). UK: Wiley-Blackwell
    • King M-J, Bruce LJ, Dhermy D. Hemolytic anemias associated with disorders of erythrocyte membrane and cytoskeleton proteins. In: Laboratory Hematology Practice. Kottke-Marchant K, Davis B. (eds). UK: Wiley-Blackwell; 2012: 602-14.
    • (2012) Laboratory Hematology Practice , pp. 602-614
    • King, M.-J.1    Bruce, L.J.2    Dhermy, D.3
  • 29
    • 0032934970 scopus 로고    scopus 로고
    • A variant of hereditary stomatocytosis with marked pseudohyperkalaemia
    • Coles SE, Ho MM, Chetty M, Nicolaou A, Stewart GW. A variant of hereditary stomatocytosis with marked pseudohyperkalaemia. Br J Haematol 1999;104:275-83.
    • (1999) Br J Haematol , vol.104 , pp. 275-283
    • Coles, S.E.1    Ho, M.M.2    Chetty, M.3    Nicolaou, A.4    Stewart, G.W.5
  • 31
    • 0031867865 scopus 로고    scopus 로고
    • Cryohemolysis for the detection of hereditary spherocytosis: correlation studies with osmotic fragility and autohemolysis
    • Streichman S, Gescheidt Y. Cryohemolysis for the detection of hereditary spherocytosis: correlation studies with osmotic fragility and autohemolysis. Am J Hematol 1998;58:206-12.
    • (1998) Am J Hematol , vol.58 , pp. 206-212
    • Streichman, S.1    Gescheidt, Y.2
  • 32
    • 53749083690 scopus 로고    scopus 로고
    • Hereditary spherocytosis
    • Oct 18
    • Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet 2008 Oct 18;372(9647):1411-26.
    • (2008) Lancet , vol.372 , Issue.9647 , pp. 1411-1426
    • Perrotta, S.1    Gallagher, P.G.2    Mohandas, N.3
  • 34
    • 84859464017 scopus 로고    scopus 로고
    • Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study on 150 patients grouped according to the molecular and clinical characteristics
    • Bianchi P, Fermo E, Vercellati C, Marcello AP, Porretti L, Cortelezzi A, Barcellini W, Zanella A. Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study on 150 patients grouped according to the molecular and clinical characteristics. Haematologica 2012;2012(97):516-23.
    • (2012) Haematologica , vol.2012 , Issue.97 , pp. 516-523
    • Bianchi, P.1    Fermo, E.2    Vercellati, C.3    Marcello, A.P.4    Porretti, L.5    Cortelezzi, A.6    Barcellini, W.7    Zanella, A.8
  • 35
    • 64849110049 scopus 로고    scopus 로고
    • Hereditary stomatocytosis and cation-leaky red cells- recent developments
    • Bruce LJ. Hereditary stomatocytosis and cation-leaky red cells- recent developments. Blood Cells Mol Dis 2009;42:216-22.
    • (2009) Blood Cells Mol Dis , vol.42 , pp. 216-222
    • Bruce, L.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.