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Volumn 93, Issue 9, 2008, Pages 1283-1288

Genotype/phenotype correlation in hereditary spherocytosis

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN; SPECTRIN;

EID: 50849115178     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.13344     Document Type: Editorial
Times cited : (44)

References (30)
  • 3
    • 33846274937 scopus 로고    scopus 로고
    • Molecular basis of hereditary red cell membrane disorders
    • Delaunay J. Molecular basis of hereditary red cell membrane disorders. Blood Rev 2007;21:1-20.
    • (2007) Blood Rev , vol.21 , pp. 1-20
    • Delaunay, J.1
  • 4
    • 42049115740 scopus 로고    scopus 로고
    • Disorders of red cell membrane
    • Xiuli A, Narla M. Disorders of red cell membrane. Br J Haematol 2008;141:367-75.
    • (2008) Br J Haematol , vol.141 , pp. 367-375
    • Xiuli, A.1    Narla, M.2
  • 5
    • 8044225939 scopus 로고    scopus 로고
    • Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis. Three new ANK1 variants: Ankyrin Bari, Napoli II and Anzio
    • Randon J, Miraglia E, del Giudice F, Bozon M, Perrotta S, De Vivo M, et al. Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis. Three new ANK1 variants: ankyrin Bari, Napoli II and Anzio. Br J Haematol 1997; 96: 500-6.
    • (1997) Br J Haematol , vol.96 , pp. 500-506
    • Randon, J.1    Miraglia, E.2    del Giudice, F.3    Bozon, M.4    Perrotta, S.5    De Vivo, M.6
  • 8
    • 0025041070 scopus 로고
    • Variable clinical severity of hereditary spherocytosis: Relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis
    • Eber SW, Armbrust R, Schröter W. Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. J Pediatr 1990;117:409-16.
    • (1990) J Pediatr , vol.117 , pp. 409-416
    • Eber, S.W.1    Armbrust, R.2    Schröter, W.3
  • 9
    • 50849126820 scopus 로고    scopus 로고
    • Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect
    • Mariani MG, Barcellini W, Vercellati C, Marcello AP, Fermo E, Pedotti P, et al. Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect. Haematologica 2008;93:1310-17.
    • (2008) Haematologica , vol.93 , pp. 1310-1317
    • Mariani, M.G.1    Barcellini, W.2    Vercellati, C.3    Marcello, A.P.4    Fermo, E.5    Pedotti, P.6
  • 11
    • 0034584616 scopus 로고    scopus 로고
    • Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis
    • Tchernia G, Delhommeau F, Perrotta S, Cynober T, Bader-Meunier B, Nobili B, et al. Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis. Hematol J 2000;1: 146-52.
    • (2000) Hematol J , vol.1 , pp. 146-152
    • Tchernia, G.1    Delhommeau, F.2    Perrotta, S.3    Cynober, T.4    Bader-Meunier, B.5    Nobili, B.6
  • 13
    • 0008435402 scopus 로고    scopus 로고
    • Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis
    • Miraglia del Giudice E, Perrotta S, Nobili B, Specchia G, D'Urzo G, Iolascon A. Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. Blood 1999;94:2259-62.
    • (1999) Blood , vol.94 , pp. 2259-2262
    • Miraglia del Giudice, E.1    Perrotta, S.2    Nobili, B.3    Specchia, G.4    D'Urzo, G.5    Iolascon, A.6
  • 15
    • 0027453719 scopus 로고
    • Coexistence of hereditary spherocytosis (HS) due to band 3 deficiency and β-thalassaemia trait: Partial correction of HS phenotype
    • Miraglia del Giudice E, Perrotta S, Nobili B, Pinto L, Cutillo L, Iolascon A. Coexistence of hereditary spherocytosis (HS) due to band 3 deficiency and β-thalassaemia trait: partial correction of HS phenotype. Br J Haematol 1993; 85:553-7.
    • (1993) Br J Haematol , vol.85 , pp. 553-557
    • Miraglia del Giudice, E.1    Perrotta, S.2    Nobili, B.3    Pinto, L.4    Cutillo, L.5    Iolascon, A.6
  • 16
    • 0028308435 scopus 로고
    • G6PD deficiency and red cell membrane defects: Additive or synergistic interaction in producing chronic haemolytic anaemia
    • Alfinito F, Calabrò V, Cappellini MD, Fiorelli G, Filosa S Iolascon A, et al. G6PD deficiency and red cell membrane defects: additive or synergistic interaction in producing chronic haemolytic anaemia. Br J Haematol 1994;87:148-52.
    • (1994) Br J Haematol , vol.87 , pp. 148-152
    • Alfinito, F.1    Calabrò, V.2    Cappellini, M.D.3    Fiorelli, G.4    Filosa, S.5    Iolascon, A.6
  • 17
    • 10544253080 scopus 로고    scopus 로고
    • Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency
    • Jarolim P, Murray JL, Rubin HL, Taylor WM, Prchal JT, Ballas SK, et al. Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency. Blood 1996;88:4366-74.
    • (1996) Blood , vol.88 , pp. 4366-4374
    • Jarolim, P.1    Murray, J.L.2    Rubin, H.L.3    Taylor, W.M.4    Prchal, J.T.5    Ballas, S.K.6
  • 18
    • 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. Semin Hematol 2004;41:165-72.
    • (2004) Semin Hematol , vol.41 , pp. 165-172
    • Delaunay, J.1
  • 21
    • 0020530019 scopus 로고
    • Osmotic gradient ektacytometry: Comprehensive characterization of red cell volume and surface maintenance
    • Clark MR, Mohandas N, Shohet SB. Osmotic gradient ektacytometry: comprehensive characterization of red cell volume and surface maintenance. Blood 1983;61:899-910.
    • (1983) Blood , vol.61 , pp. 899-910
    • Clark, M.R.1    Mohandas, N.2    Shohet, S.B.3
  • 22
    • 0347064082 scopus 로고    scopus 로고
    • Eosin-5-maleimide binding to band 3 and Rh-related proteins forms the basis of a screening test for hereditary spherocytosis
    • King MJ, Smythe JS, Mushens R. Eosin-5-maleimide binding to band 3 and Rh-related proteins forms the basis of a screening test for hereditary spherocytosis. Br J Haematol 2004;124:106-13.
    • (2004) Br J Haematol , vol.124 , pp. 106-113
    • King, M.J.1    Smythe, J.S.2    Mushens, R.3
  • 23
    • 20244368825 scopus 로고    scopus 로고
    • Protein deficiency balance as a predictor of clinical outcome in hereditary spherocytosis
    • Rocha S, Rebelo I, Costa E, Catarino C, Belo L, Castro EM, et al. Protein deficiency balance as a predictor of clinical outcome in hereditary spherocytosis. Eur J Haematol 2005; 74:374-80.
    • (2005) Eur J Haematol , vol.74 , pp. 374-380
    • Rocha, S.1    Rebelo, I.2    Costa, E.3    Catarino, C.4    Belo, L.5    Castro, E.M.6
  • 26
    • 0034136236 scopus 로고    scopus 로고
    • Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population
    • Yawata Y, Kanzaki A, Yawata A, Doerfler W, Ozcan R, Eber SW. Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. Int J Hematol 2000;71:118-35.
    • (2000) Int J Hematol , vol.71 , pp. 118-135
    • Yawata, Y.1    Kanzaki, A.2    Yawata, A.3    Doerfler, W.4    Ozcan, R.5    Eber, S.W.6
  • 27
    • 0034198572 scopus 로고    scopus 로고
    • Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis
    • Lee YK, Cho HI, Park SS, Lee YJ, Ra E, Chang YH, et al. Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis. J Korean Med Sci 2000;15:284-8.
    • (2000) J Korean Med Sci , vol.15 , pp. 284-288
    • Lee, Y.K.1    Cho, H.I.2    Park, S.S.3    Lee, Y.J.4    Ra, E.5    Chang, Y.H.6
  • 29
    • 0034663120 scopus 로고    scopus 로고
    • Lethal hereditary spherocytosis and distal tubular acidosis associated with total absence of band 3
    • Ribeiro L, Alloisio N, Almeida H, Gomes C, Texier P, Lemos C, et al. Lethal hereditary spherocytosis and distal tubular acidosis associated with total absence of band 3. Blood 2000;96:1602-4.
    • (2000) Blood , vol.96 , pp. 1602-1604
    • Ribeiro, L.1    Alloisio, N.2    Almeida, H.3    Gomes, C.4    Texier, P.5    Lemos, C.6
  • 30
    • 28844493639 scopus 로고    scopus 로고
    • The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: Implications for band 3 function
    • Perrotta S, Borriello A, Scaloni A, De Franceschi L, Brunati AM, Turrini F, et al. The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function. Blood 2005;106:4359-66.
    • (2005) Blood , vol.106 , pp. 4359-4366
    • Perrotta, S.1    Borriello, A.2    Scaloni, A.3    De Franceschi, L.4    Brunati, A.M.5    Turrini, F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.