메뉴 건너뛰기




Volumn 12, Issue 2, 2010, Pages 61-76

Beta-thalassemia

Author keywords

Beta thalassemia; Iron chelation; Thalassemia intermedia; Thalassemia major; Thalassemia prevention

Indexed keywords

BETA GLOBIN; BILIRUBIN; BONE MORPHOGENETIC PROTEIN; DEFERASIROX; DEFERIPRONE; HEMOGLOBIN F; IRON; SMAD PROTEIN;

EID: 77149153067     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181cd68ed     Document Type: Review
Times cited : (614)

References (153)
  • 2
    • 0002232619 scopus 로고    scopus 로고
    • The hemoglobinopathies
    • Scriver CR, Beaudet Al, Sly WS, Valle D, Vogelstein B, editors Chapter 101. New York, NY: McGraw-Hill Accessed December 31
    • Weatherall DJ, Clegg JB, Higgs DR, Wood WG. The hemoglobinopathies. In: Scriver CR, Beaudet Al, Sly WS, Valle D, Vogelstein B, editors. The metabolic and molecular bases of inherited disease (OMMBID). Chapter 101. New York, NY: McGraw-Hill, 2002. Available at: www.ommbid.com. Accessed December 31, 2007.
    • (2002) The Metabolic and Molecular Bases of Inherited Disease (OMMBID)
    • Weatherall, D.J.1    Clegg, J.B.2    Higgs, D.R.3    Wood, W.G.4
  • 5
    • 77149149108 scopus 로고    scopus 로고
    • Accessed December 1
    • Cao A, Galanello R. Beta-thalassemia. Available at: http://www. geneclinics. org. Accessed December 1, 2005.
    • (2005) Beta-thalassemia
    • Cao, A.1    Galanello, R.2
  • 6
    • 12344326653 scopus 로고    scopus 로고
    • Clinical aspects of /3-thalassemia
    • Steinberg MH, Forget BG, Higgs DR, Nagel RL, editors Cambridge, England: Cambridge University
    • Olivieri N, Weatherall DJ. Clinical aspects of /3-thalassemia. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, editors. Disorders of hemoglobin, genetics, pathophysiology, and clinical management. Cambridge, England: Cambridge University, 2001:277-341.
    • (2001) Disorders of Hemoglobin, Genetics, Pathophysiology, and Clinical Management , pp. 277-341
    • Olivieri, N.1    Weatherall, D.J.2
  • 7
    • 33748757909 scopus 로고    scopus 로고
    • Zoledronic acid for the treatment of osteoporosis in patients with beta-thalassemia: Results from a single-center, randomized, placebo-controlled trial
    • Voskaridou E, Anagnostopoulos A, Konstantopoulos K, et al. Zoledronic acid for the treatment of osteoporosis in patients with beta-thalassemia: results from a single-center, randomized, placebo-controlled trial. Haematologica 2006;91: 1193-1202.
    • (2006) Haematologica , vol.91 , pp. 1193-1202
    • Voskaridou, E.1    Anagnostopoulos, A.2    Konstantopoulos, K.3
  • 8
    • 5644257032 scopus 로고    scopus 로고
    • New insights into the pathophysiology and management of osteoporosis in patients with beta thalassaemia
    • Voskaridou E, Terpos E. New insights into the pathophysiology and management of osteoporosis in patients with beta thalassaemia. Br J Haematol 2004;127:127-139.
    • (2004) Br J Haematol , vol.127 , pp. 127-139
    • Voskaridou, E.1    Terpos, E.2
  • 9
    • 29744462903 scopus 로고    scopus 로고
    • Osteoporosis in beta-thalassemia: Clinical and genetic aspects
    • Origa R, Fiumana E, Gamberini MR, et al. Osteoporosis in beta-thalassemia: clinical and genetic aspects. Ann N YAcadSci 2005;1054:451-456.
    • (2005) Ann N YAcadSci , vol.1054 , pp. 451-456
    • Origa, R.1    Fiumana, E.2    Gamberini, M.R.3
  • 10
    • 9144224804 scopus 로고    scopus 로고
    • Hepatocellular carcinoma in the thalassaemia syndromes
    • Borgna-Pignatti C, Vergine G, Lombardo T, et al. Hepatocellular carcinoma in the thalassaemia syndromes. Br J Haematol 2004;124:114-117.
    • (2004) Br J Haematol , vol.124 , pp. 114-117
    • Borgna-Pignatti, C.1    Vergine, G.2    Lombardo, T.3
  • 11
    • 20844460608 scopus 로고    scopus 로고
    • Survival and complications in patients with thalassemia major treated with transfusion and deferoxamine
    • Borgna-Pignatti C, Rugolotto S, De Stefano P, et al. Survival and complications in patients with thalassemia major treated with transfusion and deferoxamine. Haematologica 2004;89:1187-1193.
    • (2004) Haematologica , vol.89 , pp. 1187-1193
    • Borgna-Pignatti, C.1    Rugolotto, S.2    De Stefano, P.3
  • 12
    • 0036092892 scopus 로고    scopus 로고
    • The hypercoagulable state in thalassemia
    • Eldor A, Rachmilewitz EA. The hypercoagulable state in thalassemia. Blood 2002;99:36-43.
    • (2002) Blood , vol.99 , pp. 36-43
    • Eldor, A.1    Rachmilewitz, E.A.2
  • 13
    • 0041672570 scopus 로고    scopus 로고
    • Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation
    • DOI 10.1182/blood-2003-03-0672
    • Ganz T. Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation. Blood 2003;102:783-788. (Pubitemid 36917762)
    • (2003) Blood , vol.102 , Issue.3 , pp. 783-788
    • Ganz, T.1
  • 14
    • 10844258104 scopus 로고    scopus 로고
    • Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
    • Nemeth E, Tuttle MS, Powelson J, et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 2004;306:2090-2093.
    • (2004) Science , vol.306 , pp. 2090-2093
    • Nemeth, E.1    Tuttle, M.S.2    Powelson, J.3
  • 15
    • 33644876815 scopus 로고    scopus 로고
    • A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression
    • Wang RH, Li C, Xu X, et al. A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression. Cell Metab 2005;2:399-409.
    • (2005) Cell Metab , vol.2 , pp. 399-409
    • Wang, R.H.1    Li, C.2    Xu, X.3
  • 16
    • 34948904750 scopus 로고    scopus 로고
    • High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin
    • Tanno T, BhanuNV, OnealPA, et al. High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin. Nat Med 2007;13:1096-1101.
    • (2007) Nat Med , vol.13 , pp. 1096-1101
    • Tanno, T.1    Onealpa, B.2
  • 17
    • 34447306076 scopus 로고    scopus 로고
    • Liver iron concentrations and urinary hepcidin in beta-thalassemia
    • Origa R, Galanello R, Ganz T, et al. Liver iron concentrations and urinary hepcidin in beta-thalassemia. Haematologica 2007;92:583-588.
    • (2007) Haematologica , vol.92 , pp. 583-588
    • Origa, R.1    Galanello, R.2    Ganz, T.3
  • 18
    • 34249658982 scopus 로고    scopus 로고
    • Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportin
    • Gardenghi S, Marongiu MF, Ramos P, et al. Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportin. Blood 2007; 109:5027-5035.
    • (2007) Blood , vol.109 , pp. 5027-5035
    • Gardenghi, S.1    Marongiu, M.F.2    Ramos, P.3
  • 19
    • 33748370295 scopus 로고    scopus 로고
    • Downregulation of hepcidin and haemojuvelin expression in the hepatocyte cell-line HepG2 induced by thalassaemic sera
    • Weizer-Stern O, Adamsky K, Amariglio N, et al. Downregulation of hepcidin and haemojuvelin expression in the hepatocyte cell-line HepG2 induced by thalassaemic sera. Br J Haematol 2006;135:129-138.
    • (2006) Br J Haematol , vol.135 , pp. 129-138
    • Weizer-Stern, O.1    Adamsky, K.2    Amariglio, N.3
  • 21
    • 0037081819 scopus 로고    scopus 로고
    • Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation
    • FresonK, Matthijs G, Thys C, et al. Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. Hum Mol Genet 2002;11:147-152.
    • (2002) Hum Mol Genet , vol.11 , pp. 147-152
    • Fresonk Matthijs, G.1    Thys, C.2
  • 23
    • 0037406282 scopus 로고    scopus 로고
    • Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: Application to carrier screening and prenatal diagnosis of thalassemia syndromes
    • Vrettou C, Traeger-Synodinos J, Tzetis M, Malamis G, Kanavakis E. Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes. Clin Chem 2003;49:769-776.
    • (2003) Clin Chem , vol.49 , pp. 769-776
    • Vrettou, C.1    Traeger-Synodinos, J.2    Tzetis, M.3    Malamis, G.4    Kanavakis, E.5
  • 24
    • 34147143445 scopus 로고    scopus 로고
    • Molecular analysis of alpha/beta-thalassemia in a southern Chinese population
    • Ye BC, Zhang Z, Lei Z. Molecular analysis of alpha/beta-thalassemia in a southern Chinese population. Genet Test 2007;11:75-83.
    • (2007) Genet Test , vol.11 , pp. 75-83
    • Ye, B.C.1    Zhang, Z.2    Lei, Z.3
  • 25
    • 0031972656 scopus 로고    scopus 로고
    • Beta-thalassaemia intermedia:is it possible consistently to predict phenotype from genotype?
    • Ho PJ, Hall GW, Luo LY, Weatherall DJ, Thein SL. Beta-thalassaemia intermedia: is it possible consistently to predict phenotype from genotype? Br J Haematol 1998;100:70-78.
    • (1998) Br J Haematol , vol.100 , pp. 70-78
    • Ho, P.J.1    Hall, G.W.2    Luo, L.Y.3    Weatherall, D.J.4    Thein, S.L.5
  • 26
    • 0024338661 scopus 로고
    • Molecular analysis of beta zero-thalassemia intermedia in Sardinia
    • Galanello R, Dessi E, Melis MA, et al. Molecular analysis of beta zero-thalassemia intermedia in Sardinia. Blood 1989;74:823-827.
    • (1989) Blood , vol.74 , pp. 823-827
    • Galanello, R.1    Dessi, E.2    Melis, M.A.3
  • 28
    • 0031012244 scopus 로고    scopus 로고
    • Genetic analysis of beta-thalassemia intermedia in Israel: Diversity of mechanisms and unpredictability of phenotype
    • Rund D, Oron-Karni V, Filon D, Goldfarb A, Rachmilewitz E, Oppenheim A. Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype. Am J Hematol 1997;54: 16-22.
    • (1997) Am J Hematol , vol.54 , pp. 16-22
    • Rund, D.1    Oron-Karni, V.2    Filon, D.3    Goldfarb, A.4    Rachmilewitz, E.5    Oppenheim, A.6
  • 30
    • 0024477306 scopus 로고
    • A C-T substitution at nt-101 in a conserved DNA sequence of the promotor region of the beta-globin gene is associated with "silent"beta thalassemia
    • Gonzalez-Redondo JM, Stoming TA, Kutlar A, et al. A C-T substitution at nt-101 in a conserved DNA sequence of the promotor region of the beta-globin gene is associated with "silent" beta-thalassemia. Blood 1989; 73:1705-1711.
    • (1989) Blood , vol.73 , pp. 1705-1711
    • Gonzalez-Redondo, J.M.1    Stoming, T.A.2    Kutlar, A.3
  • 31
  • 32
    • 0027195283 scopus 로고
    • A promoter mutation of the beta-globin gene (-101 C->T) has an age-related expression pattern
    • Murru S, Pischedda MC, Cao A, et al. A promoter mutation of the beta-globin gene (-101 C->T) has an age-related expression pattern. Blood 1993;81:2818-2819.
    • (1993) Blood , vol.81 , pp. 2818-2819
    • Murru, S.1    Pischedda, M.C.2    Cao, A.3
  • 33
    • 85047692316 scopus 로고
    • Thalassaemia intermedia in Cyprus: The interaction of alpha and beta thalassaemia
    • Wainscoat JS, Kanavakis E, Wood WG, et al. Thalassaemia intermedia in Cyprus: the interaction of alpha and beta thalassaemia. Br J Haematol 1983;53:411-416.
    • (1983) Br J Haematol , vol.53 , pp. 411-416
    • Wainscoat, J.S.1    Kanavakis, E.2    Wood, W.G.3
  • 34
    • 30944436542 scopus 로고
    • Genotype-phenotype correlations in beta-thalassemias
    • Cao A, Galanello R, Rosatelli MC. Genotype-phenotype correlations in beta-thalassemias. Blood Rev 1994;8:1-12.
    • (1994) Blood Rev , vol.8 , pp. 1-12
    • Cao, A.1    Galanello, R.2    Rosatelli, M.C.3
  • 35
    • 0021355531 scopus 로고
    • Multiple mutations produce delta beta° thalassemia in Sardinia
    • Pirastu M, Kan YW, Galanello R, Cao A. Multiple mutations produce delta beta° thalassemia in Sardinia. Science 1984;223:929-930.
    • (1984) Science , vol.223 , pp. 929-930
    • Pirastu, M.1    Kan, Y.W.2    Galanello, R.3    Cao, A.4
  • 36
    • 0036720532 scopus 로고    scopus 로고
    • Homozy-gosity for nondeletion delta-beta(0) thalassemia resulting in a silent clinical phenotype
    • Galanello R, Barella S, Satta S, Maccioni L, Pintor C, Cao A. Homozy-gosity for nondeletion delta-beta(0) thalassemia resulting in a silent clinical phenotype. Blood 2002;100:1913-1914.
    • (2002) Blood , vol.100 , pp. 1913-1914
    • Galanello, R.1    Barella, S.2    Satta, S.3    MacCioni, L.4    Pintor, C.5    Cao, A.6
  • 37
    • 0019952401 scopus 로고
    • Delta beta (F)-thalassaemia in Sardinia
    • Cao A, Melis MA, Galanello R, et al. Delta beta (F)-thalassaemia in Sardinia. J Med Genet 1982;19:184-192.
    • (1982) J Med Genet , vol.19 , pp. 184-192
    • Cao, A.1    Melis, M.A.2    Galanello, R.3
  • 38
    • 65349107708 scopus 로고    scopus 로고
    • Discovering the genetics underlying foetal haemoglobin production in adults
    • Thein SL, Menzel S. Discovering the genetics underlying foetal haemoglobin production in adults. Br J Haematol 2009;145:455-467.
    • (2009) Br J Haematol , vol.145 , pp. 455-467
    • Thein, S.L.1    Menzel, S.2
  • 39
    • 40349092939 scopus 로고    scopus 로고
    • Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia
    • Uda M, Galanello R, Sanna S, et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci USA 2008;105: 1620-1625.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 1620-1625
    • Uda, M.1    Galanello, R.2    Sanna, S.3
  • 40
    • 34748864128 scopus 로고    scopus 로고
    • A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15
    • Menzel S, Garner C, Gut I, et al. A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat Genet 2007;39:1197-1199.
    • (2007) Nat Genet , vol.39 , pp. 1197-1199
    • Menzel, S.1    Garner, C.2    Gut, I.3
  • 41
    • 34547450531 scopus 로고    scopus 로고
    • Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults
    • Thein SL, Menzel S, Peng X, et al. Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. Proc Natl Acad Sci USA 2007;104:11346-11351.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 11346-11351
    • Thein, S.L.1    Menzel, S.2    Peng, X.3
  • 42
    • 50149117726 scopus 로고    scopus 로고
    • DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease
    • Lettre G, Sankaran VG, Bezerra MA, et al. DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci USA 2008;105:11869-11874.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 11869-11874
    • Lettre, G.1    Sankaran, V.G.2    Bezerra, M.A.3
  • 43
    • 57849083996 scopus 로고    scopus 로고
    • Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A
    • Sankaran VG, Menne TF, Xu J, et al. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science 2008;322:1839-1842.
    • (2008) Science , vol.322 , pp. 1839-1842
    • Sankaran, V.G.1    Menne, T.F.2    Xu, J.3
  • 45
    • 0024780661 scopus 로고
    • A non-deletion hereditary persistence of fetal hemoglobin (HPFH) determinant not linked to the beta-globin gene complex
    • Thein SL, Weatherall DJ. A non-deletion hereditary persistence of fetal hemoglobin (HPFH) determinant not linked to the beta-globin gene complex. Prog Clin Biol Res 1989;316B:97-111.
    • (1989) Prog Clin Biol Res , vol.316 B , pp. 97-111
    • Thein, S.L.1    Weatherall, D.J.2
  • 46
    • 69849101637 scopus 로고    scopus 로고
    • The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells
    • Wahlberg K, Jiang J, Rooks H, et al. The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells. Blood 2009;114:1254-1262.
    • (2009) Blood , vol.114 , pp. 1254-1262
    • Wahlberg, K.1    Jiang, J.2    Rooks, H.3
  • 47
    • 53149150933 scopus 로고    scopus 로고
    • BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobi-nopathies
    • Sedgewick AE, Timofeev N, Sebastiani P, et al. BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobi-nopathies. Blood Cells Mol Dis 2008;41:255-258.
    • (2008) Blood Cells Mol Dis , vol.41 , pp. 255-258
    • Sedgewick, A.E.1    Timofeev, N.2    Sebastiani, P.3
  • 48
    • 0036181252 scopus 로고    scopus 로고
    • Evidence of genetic interaction between the beta-globin complex and chromosome 8q in the expression of fetal hemoglobin
    • Garner CP, Tatu T, Best S, Creary L, Thein SL. Evidence of genetic interaction between the beta-globin complex and chromosome 8q in the expression of fetal hemoglobin. Am J Hum Genet 2002;70:793-799.
    • (2002) Am J Hum Genet , vol.70 , pp. 793-799
    • Garner, C.P.1    Tatu, T.2    Best, S.3    Creary, L.4    Thein, S.L.5
  • 49
    • 4644344794 scopus 로고    scopus 로고
    • Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin
    • Garner C, Silver N, Best S, et al. Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin. Blood 2004;104: 2184-2186.
    • (2004) Blood , vol.104 , pp. 2184-2186
    • Garner, C.1    Silver, N.2    Best, S.3
  • 50
    • 0024209310 scopus 로고
    • X-linked dominant control of F-cells in normal adult life: Characterization of the Swiss type as hereditary persistence of fetal hemoglobin regulated dominantly by gene(s) on X chromosome
    • Miyoshi K, Kaneto Y, Kawai H, et al. X-linked dominant control of F-cells in normal adult life: characterization of the Swiss type as hereditary persistence of fetal hemoglobin regulated dominantly by gene(s) on X chromosome. Blood 1988;72:1854-1860.
    • (1988) Blood , vol.72 , pp. 1854-1860
    • Miyoshi, K.1    Kaneto, Y.2    Kawai, H.3
  • 51
    • 0026708201 scopus 로고
    • Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2
    • Dover GJ, Smith KD, Chang YC, et al. Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2. Blood 1992;80:816-824.
    • (1992) Blood , vol.80 , pp. 816-824
    • Dover, G.J.1    Smith, K.D.2    Chang, Y.C.3
  • 52
    • 70449719115 scopus 로고    scopus 로고
    • Amelioration of Sardinian beta-zero thalassemia by genetic modifiers
    • Galanello R, Sanna S, Perseu L, et al. Amelioration of Sardinian beta-zero thalassemia by genetic modifiers. Blood 2009;114:3935-3937.
    • (2009) Blood , vol.114 , pp. 3935-3937
    • Galanello, R.1    Sanna, S.2    Perseu, L.3
  • 53
    • 0021067375 scopus 로고
    • A family with segregating triplicated alpha globin loci and beta thalassemia
    • Galanello R, Ruggeri R, Paglietti E, Addis M, Melis MA, Cao A. A family with segregating triplicated alpha globin loci and beta thalassemia. Blood 1983;62:1035-1040.
    • (1983) Blood , vol.62 , pp. 1035-1040
    • Galanello, R.1    Ruggeri, R.2    Paglietti, E.3    Addis, M.4    Melis, M.A.5    Cao, A.6
  • 54
  • 55
    • 85047689933 scopus 로고
    • Thalassaemia intermedia: Interaction of the triple alpha-globin gene arrangement and heterozygous beta-thalassaemia
    • Kulozik AE, Thein SL, Wainscoat JS, et al. Thalassaemia intermedia: interaction of the triple alpha-globin gene arrangement and heterozygous beta-thalassaemia. Br J Haematol 1987;66:109-112.
    • (1987) Br J Haematol , vol.66 , pp. 109-112
    • Kulozik, A.E.1    Thein, S.L.2    Wainscoat, J.S.3
  • 57
    • 0024511691 scopus 로고
    • The interaction of anti 3.7 type quadruplicated alpha-globin genes and heterozygous beta-thalas-semia
    • Thompson CC, Ali MA, Vacovsky M, Boyadjian S. The interaction of anti 3.7 type quadruplicated alpha-globin genes and heterozygous beta-thalas-semia. Hemoglobin 1989;13:125-135.
    • (1989) Hemoglobin , vol.13 , pp. 125-135
    • Thompson, C.C.1    Ali, M.A.2    Vacovsky, M.3    Boyadjian, S.4
  • 58
    • 70349637640 scopus 로고    scopus 로고
    • Association of alpha globin gene quadruplication and heterozygous beta thalassemia in patients with Thalassemia intermedia
    • Sollaino MC, Paglietti ME, Perseu L, Giagu N, Loi D, Galanello R. Association of alpha globin gene quadruplication and heterozygous beta thalassemia in patients with Thalassemia intermedia. Haematologica 2009; 94:1445-1448.
    • (2009) Haematologica , vol.94 , pp. 1445-1448
    • Sollaino, M.C.1    Paglietti, M.E.2    Perseu, L.3    Giagu, N.4    Loi, D.5    Galanello, R.6
  • 59
    • 41949110058 scopus 로고    scopus 로고
    • Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients
    • Harteveld CL, Refaldi C, Cassinerio E, Cappellini MD, Giordano PC. Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients. Blood Cells Mol Dis 2008;40:312-316.
    • (2008) Blood Cells Mol Dis , vol.40 , pp. 312-316
    • Harteveld, C.L.1    Refaldi, C.2    Cassinerio, E.3    Cappellini, M.D.4    Giordano, P.C.5
  • 60
    • 0026514523 scopus 로고
    • Dominant beta thalassaemia: Molecular basis and pathophysiol-ogy
    • Thein SL. Dominant beta thalassaemia: molecular basis and pathophysiol-ogy. Br J Haematol 1992;80:273-277.
    • (1992) Br J Haematol , vol.80 , pp. 273-277
    • Thein, S.L.1
  • 61
    • 0027034702 scopus 로고
    • A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype
    • Murru S, Poddie D, Sciarratta GV, et al. A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype. Hum Mutat 1992;1:124-128.
    • (1992) Hum Mutat , vol.1 , pp. 124-128
    • Murru, S.1    Poddie, D.2    Sciarratta, G.V.3
  • 62
    • 0032709384 scopus 로고    scopus 로고
    • Is it dominantly inherited beta thalassaemia or just a beta-chain variant that is highly unstable?
    • Thein SL. Is it dominantly inherited beta thalassaemia or just a beta-chain variant that is highly unstable? Br J Haematol 1999;107:12-21.
    • (1999) Br J Haematol , vol.107 , pp. 12-21
    • Thein, S.L.1
  • 63
    • 0037065526 scopus 로고    scopus 로고
    • A novel mechanism for thalas-saemia intermedia
    • Badens C, Mattei MG, Imbert AM, et al. A novel mechanism for thalas-saemia intermedia. Lancet 2002;359:132-133.
    • (2002) Lancet , vol.359 , pp. 132-133
    • Badens, C.1    Mattei, M.G.2    Imbert, A.M.3
  • 64
    • 10344260638 scopus 로고    scopus 로고
    • Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients
    • Galanello R, Perseu L, Perra C, et al. Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients. Br J Haematol 2004;127:604-606.
    • (2004) Br J Haematol , vol.127 , pp. 604-606
    • Galanello, R.1    Perseu, L.2    Perra, C.3
  • 65
    • 0025053624 scopus 로고
    • Silent beta-thalassemia and thalassemia intermedia
    • Huisman TH. Silent beta-thalassemia and thalassemia intermedia. Haematologica 1990;75(suppl 5):1-8.
    • (1990) Haematologica , vol.75 , Issue.SUPPL.5 , pp. 1-8
    • Huisman, T.H.1
  • 66
    • 85047690518 scopus 로고    scopus 로고
    • Loss of alpha-hemoglobin-stabilizing protein impairs erythropoiesis and exacerbates beta-thalassemia
    • Kong Y, Zhou S, Kihm AJ, et al. Loss of alpha-hemoglobin-stabilizing protein impairs erythropoiesis and exacerbates beta-thalassemia. J Clin Invest 2004;114:1457-1466.
    • (2004) J Clin Invest , vol.114 , pp. 1457-1466
    • Kong, Y.1    Zhou, S.2    Kihm, A.J.3
  • 67
    • 33646689318 scopus 로고    scopus 로고
    • Alpha-haemoglobin stabilising protein is a quantitative trait gene that modifies the phenotype of beta-thalassaemia
    • Lai MI, Jiang J, Silver N, et al. Alpha-haemoglobin stabilising protein is a quantitative trait gene that modifies the phenotype of beta-thalassaemia. Br J Haematol 2006;133:675-682.
    • (2006) Br J Haematol , vol.133 , pp. 675-682
    • Lai, M.I.1    Jiang, J.2    Silver, N.3
  • 68
    • 1942432701 scopus 로고    scopus 로고
    • AHSP expression in beta thalassemia carriers with thalassemia intermedia phenotype
    • Abstract
    • Galanello R, Perseu L, Giagu N, Sole G, Perra C. AHSP expression in beta thalassemia carriers with thalassemia intermedia phenotype. Blood 2003; 102:Abstract 1881.
    • (2003) Blood , vol.102 , pp. 1881
    • Galanello, R.1    Perseu, L.2    Giagu, N.3    Sole, G.4    Perra, C.5
  • 69
    • 0035320886 scopus 로고    scopus 로고
    • Phenotype-genotype relationships in monogenic disease: Lessons from the thalassaemias
    • Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet 2001;2:245-255.
    • (2001) Nat Rev Genet , vol.2 , pp. 245-255
    • Weatherall, D.J.1
  • 70
    • 0035676442 scopus 로고    scopus 로고
    • Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia
    • Galanello R, Piras S, Barella S, et al. Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia. Br J Haematol 2001;115:926-928.
    • (2001) Br J Haematol , vol.115 , pp. 926-928
    • Galanello, R.1    Piras, S.2    Barella, S.3
  • 72
    • 0019404746 scopus 로고
    • Cholelithiasis in children with thalassemia major: An ultrasonographic study
    • Borgna-Pignatti C, De Stefano P, Pajno D, Tomasi G, Gatti C. Cholelithiasis in children with thalassemia major: an ultrasonographic study. J Pe-diatr 1981;99:243-244.
    • (1981) J Pe-diatr , vol.99 , pp. 243-244
    • Borgna-Pignatti, C.1    De Stefano, P.2    Pajno, D.3    Tomasi, G.4    Gatti, C.5
  • 74
    • 0242362227 scopus 로고    scopus 로고
    • Thalassemia minor, the Gilbert mutation, and the risk of gallstones
    • Borgna-Pignatti C, Rigon F, Merlo L, et al. Thalassemia minor, the Gilbert mutation, and the risk of gallstones. Haematologica 2003;88:1106-1109.
    • (2003) Haematologica , vol.88 , pp. 1106-1109
    • Borgna-Pignatti, C.1    Rigon, F.2    Merlo, L.3
  • 75
    • 0030698230 scopus 로고    scopus 로고
    • Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome
    • Galanello R, Perseu L, Melis MA, et al. Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome. Br J Haematol 1997;99:433-436.
    • (1997) Br J Haematol , vol.99 , pp. 433-436
    • Galanello, R.1    Perseu, L.2    Melis, M.A.3
  • 76
    • 0032005254 scopus 로고    scopus 로고
    • UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis
    • Iolascon A, Faienza MF, Moretti A, Perrotta S, Miraglia del Giudice E. UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. Blood 1998;91:1093.
    • (1998) Blood , vol.91 , pp. 1093
    • Iolascon, A.1    Faienza, M.F.2    Moretti, A.3    Perrotta, S.4    Miraglia Del Giudice, E.5
  • 77
    • 0008435402 scopus 로고    scopus 로고
    • Coinheritance of Gilbert's syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis
    • Miraglia del Giudice E, Perrotta S, Nobili B, Specchia C, D'Urso G, Iolascon A. Coinheritance of Gilbert's syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. Blood 1999;94:2259-2262.
    • (1999) Blood , vol.94 , pp. 2259-2262
    • Miraglia Del Giudice, E.1    Perrotta, S.2    Nobili, B.3    Specchia, C.4    D'Urso, G.5    Iolascon, A.6
  • 82
  • 83
    • 0034493507 scopus 로고    scopus 로고
    • Haemochromatosis in patients with beta-thalassaemia trait
    • Piperno A, Mariani R, Arosio C, et al. Haemochromatosis in patients with beta-thalassaemia trait. Br J Haematol 2000;111:908-914.
    • (2000) Br J Haematol , vol.111 , pp. 908-914
    • Piperno, A.1    Mariani, R.2    Arosio, C.3
  • 85
    • 0032411621 scopus 로고    scopus 로고
    • Bone disease in beta-thalassaemia major
    • Wonke B. Bone disease in beta-thalassaemia major. Br J Haematol 1998; 103:897-901.
    • (1998) Br J Haematol , vol.103 , pp. 897-901
    • Wonke, B.1
  • 86
    • 0034531861 scopus 로고    scopus 로고
    • Osteoporosis in beta-thalas-saemia major patients: Analysis of the genetic background
    • Perrotta S, Cappellini MD, Bertoldo F, et al. Osteoporosis in beta-thalas-saemia major patients: analysis of the genetic background. Br J Haematol 2000;111:461-466.
    • (2000) Br J Haematol , vol.111 , pp. 461-466
    • Perrotta, S.1    Cappellini, M.D.2    Bertoldo, F.3
  • 88
    • 0032427820 scopus 로고    scopus 로고
    • Genetic and acquired predisposing factors and treatment of osteoporosis in thalassaemia major
    • Wonke B, Jensen C, Hanslip JJ, et al. Genetic and acquired predisposing factors and treatment of osteoporosis in thalassaemia major. J Pediatr Endocrinol Metab 1998;11(suppl 3):795-801.
    • (1998) J Pediatr Endocrinol Metab , vol.11 , Issue.SUPPL. 3 , pp. 795-801
    • Wonke, B.1    Jensen, C.2    Hanslip, J.J.3
  • 89
    • 0030663851 scopus 로고    scopus 로고
    • The role of genomics in studying genetic susceptibility to infectious disease
    • Weatherall DJ, Clegg JB, Kwiatkowski D. The role of genomics in studying genetic susceptibility to infectious disease. Genome Res 1997;7:967-973.
    • (1997) Genome Res , vol.7 , pp. 967-973
    • Weatherall, D.J.1    Clegg, J.B.2    Kwiatkowski, D.3
  • 90
    • 0025913521 scopus 로고
    • Common west African HLA antigens are associated with protection from severe malaria
    • Hill AVS, Allsopp CEM, Kwiatkowski D. Common west African HLA antigens are associated with protection from severe malaria. Nature 1991; 352:595-600.
    • (1991) Nature , vol.352 , pp. 595-600
    • Hill, A.V.S.1    Allsopp, C.E.M.2    Kwiatkowski, D.3
  • 91
    • 0028169333 scopus 로고
    • Variation in the TNF-alfa promoter region associated with susceptibility to cerebral malaria
    • McGuire W, Hill AVS, Allsopp CEM, Greenwood BM, Kwiatkowski D. Variation in the TNF-alfa promoter region associated with susceptibility to cerebral malaria. Nature 1994;371:508-511.
    • (1994) Nature , vol.371 , pp. 508-511
    • McGuire, W.1    Hill, A.V.S.2    Allsopp, C.E.M.3    Greenwood, B.M.4    Kwiatkowski, D.5
  • 92
    • 0030791375 scopus 로고    scopus 로고
    • A high frequency African coding polymorphism in the N-terminal domain of ICAM-1 predisposing to cerebral malaria in Kenya
    • Fernandez-Reyes D, Craig AG, Kyes SA, et al. A high frequency African coding polymorphism in the N-terminal domain of ICAM-1 predisposing to cerebral malaria in Kenya. Hum Mol Genet 1997;6:1357-1360.
    • (1997) Hum Mol Genet , vol.6 , pp. 1357-1360
    • Fernandez-Reyes, D.1    Craig, A.G.2    Kyes, S.A.3
  • 93
    • 0020580228 scopus 로고
    • Pheno-typic effect of heterozygous alpha and beta 0-thalassemia interaction
    • Melis MA, Pirastu M, Galanello R, Furbetta M, Tuveri T, Cao A. Pheno-typic effect of heterozygous alpha and beta 0-thalassemia interaction. Blood 1983;62:226-229.
    • (1983) Blood , vol.62 , pp. 226-229
    • Melis, M.A.1    Pirastu, M.2    Galanello, R.3    Furbetta, M.4    Tuveri, T.5    Cao, A.6
  • 94
    • 0021254793 scopus 로고
    • Hematological phenotype of the double heterozygous state for alpha and beta thalassemia
    • Rosatelli C, Falchi AM, Scalas MT, Tuveri T, Furbetta M, Cao A. Hematological phenotype of the double heterozygous state for alpha and beta thalassemia. Hemoglobin 1984;8:25-35.
    • (1984) Hemoglobin , vol.8 , pp. 25-35
    • Rosatelli, C.1    Falchi, A.M.2    Scalas, M.T.3    Tuveri, T.4    Furbetta, M.5    Cao, A.6
  • 95
    • 85047689869 scopus 로고
    • Beta + thalassemia-Portuguese type: Clinical, haematological and molecular studies of a newly defined form of beta thalassaemia
    • Tamagnini GP, Lopes MC, Castanheira ME, Wainscoat JS, Wood WG. Beta + thalassemia-Portuguese type: clinical, haematological and molecular studies of a newly defined form of beta thalassaemia. Br J Haematol 1983;54:189-200.
    • (1983) Br J Haematol , vol.54 , pp. 189-200
    • Tamagnini, G.P.1    Lopes, M.C.2    Castanheira, M.E.3    Wainscoat, J.S.4    Wood, W.G.5
  • 98
    • 0025194949 scopus 로고
    • The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassaemia in the Italian population
    • Ristaldi MS, Murru S, Loudianos G, et al. The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassaemia in the Italian population. Br J Haematol 1990;74:480-486.
    • (1990) Br J Haematol , vol.74 , pp. 480-486
    • Ristaldi, M.S.1    Murru, S.2    Loudianos, G.3
  • 99
    • 0023832588 scopus 로고
    • Pitfalls in genetic counselling for beta-thalassemia: An individual with 4 different thalassemia mutations
    • Galanello R, Paglietti ME, Addis M, et al. Pitfalls in genetic counselling for beta-thalassemia: an individual with 4 different thalassemia mutations. Clin Genet 1988;33:151-155.
    • (1988) Clin Genet , vol.33 , pp. 151-155
    • Galanello, R.1    Paglietti, M.E.2    Addis, M.3
  • 100
    • 0032415999 scopus 로고    scopus 로고
    • Prenatal diagnosis and screening of the haemoglobinopathies
    • Cao A, Galanello R, Rosatelli MC. Prenatal diagnosis and screening of the haemoglobinopathies. Baillieres Clin Haematol 1998;11:215-238.
    • (1998) Baillieres Clin Haematol , vol.11 , pp. 215-238
    • Cao, A.1    Galanello, R.2    Rosatelli, M.C.3
  • 101
    • 0028279382 scopus 로고
    • Genotype of subjects with borderline hemoglobin A2 levels: Implication for beta-thalassemia carrier screening
    • Galanello R, Barella S, Ideo A, et al. Genotype of subjects with borderline hemoglobin A2 levels: implication for beta-thalassemia carrier screening. Am J Hematol 1994;46:79-81.
    • (1994) Am J Hematol , vol.46 , pp. 79-81
    • Galanello, R.1    Barella, S.2    Ideo, A.3
  • 102
    • 0025264871 scopus 로고
    • Deletion delta-thalassemia: The 7.2 kb deletion of Corfu delta beta-thalassemia in a non-beta-thalassemia chromosome
    • Galanello R, Melis MA, Podda A, et al. Deletion delta-thalassemia: the 7.2 kb deletion of Corfu delta beta-thalassemia in a non-beta-thalassemia chromosome. Blood 1990;15:75:1747-1749.
    • (1990) Blood , vol.15 , Issue.75 , pp. 1747-1749
    • Galanello, R.1    Melis, M.A.2    Podda, A.3
  • 106
    • 33847159159 scopus 로고    scopus 로고
    • Identification of nucleated red blood cells in maternal circulation: A second step in screening for fetal aneuploidies and pregnancy complications
    • Mavrou A, Kouvidi E, Antsaklis A, Souka A, Kitsiou Tzeli S, Kolialexi A. Identification of nucleated red blood cells in maternal circulation: a second step in screening for fetal aneuploidies and pregnancy complications. Prenat Diagn 2007;27:150-153.
    • (2007) Prenat Diagn , vol.27 , pp. 150-153
    • Mavrou, A.1    Kouvidi, E.2    Antsaklis, A.3    Souka, A.4    Kitsiou Tzeli, S.5    Kolialexi, A.6
  • 107
    • 0030293185 scopus 로고    scopus 로고
    • Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood
    • Cheung MC, Goldberg JD, Kan YW. Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood. Nat Genet 1996;14:264-268.
    • (1996) Nat Genet , vol.14 , pp. 264-268
    • Cheung, M.C.1    Goldberg, J.D.2    Kan, Y.W.3
  • 108
    • 33846857305 scopus 로고    scopus 로고
    • A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: A preliminary study
    • Dhallan R, Guo X, Emche S, et al. A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary study. Lancet 2007;369:474-481.
    • (2007) Lancet , vol.369 , pp. 474-481
    • Dhallan, R.1    Guo, X.2    Emche, S.3
  • 109
    • 14844307087 scopus 로고    scopus 로고
    • Recent advances in fetal nucleic acids in maternal plasma
    • Lo YM. Recent advances in fetal nucleic acids in maternal plasma. J His-tochem Cytochem 2005;53:293-296.
    • (2005) J His-tochem Cytochem , vol.53 , pp. 293-296
    • Lo, Y.M.1
  • 111
    • 34447135533 scopus 로고    scopus 로고
    • Modern treatment of thalassaemia intermedia
    • Borgna-Pignatti C. Modern treatment of thalassaemia intermedia. Br J Hematol 2007;138:291-304.
    • (2007) Br J Hematol , vol.138 , pp. 291-304
    • Borgna-Pignatti, C.1
  • 112
    • 0037373412 scopus 로고    scopus 로고
    • Proton transverse relaxation rate (R2) images of liver tissue; Mapping local tissue iron concentrations with MRI [corrected]
    • Erratum in: Magn Reson Med 2003;49, 1201
    • Clark PR, Chua-Anusorn W, St Pierre TG. Proton transverse relaxation rate (R2) images of liver tissue; mapping local tissue iron concentrations with MRI [corrected]. Magn Reson Med 2003;49:572-575. Erratum in: Magn Reson Med 2003;49:1201.
    • (2003) Magn Reson Med , Issue.49 , pp. 572-575
    • Clark, P.R.1    Chua-Anusorn, W.2    St Pierre, T.G.3
  • 113
    • 18044399191 scopus 로고    scopus 로고
    • Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload
    • Anderson LJ, Holden S, Davis B, et al. Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload. Eur Heart J 2001;22:2171-2179.
    • (2001) Eur Heart J , vol.22 , pp. 2171-2179
    • Anderson, L.J.1    Holden, S.2    Davis, B.3
  • 114
    • 26444604415 scopus 로고    scopus 로고
    • Intercentre reproducibility of magnetic resonance T2* measurements of myocardial iron in thalassaemia
    • Westwood MA, Firmin DN, Gildo M, et al. Intercentre reproducibility of magnetic resonance T2* measurements of myocardial iron in thalassaemia. Int J Cardiovasc Imaging 2005;21:531-538.
    • (2005) Int J Cardiovasc Imaging , vol.21 , pp. 531-538
    • Westwood, M.A.1    Firmin, D.N.2    Gildo, M.3
  • 116
    • 7944230624 scopus 로고    scopus 로고
    • Myocardial iron clearance during reversal of siderotic cardiomyopathy with intravenous desferriox-amine: A prospective study using T2* cardiovascular magnetic resonance
    • Anderson LJ, Westwood MA, Holden S, et al. Myocardial iron clearance during reversal of siderotic cardiomyopathy with intravenous desferriox-amine: a prospective study using T2* cardiovascular magnetic resonance. Br J Haematol 2004;127:348-355.
    • (2004) Br J Haematol , vol.127 , pp. 348-355
    • Anderson, L.J.1    Westwood, M.A.2    Holden, S.3
  • 117
    • 0037930751 scopus 로고    scopus 로고
    • Monitoring long-term efficacy of iron chelation therapy by deferiprone and desferrioxamine in patients with beta-thalassaemia major: Application of SQUID biomagnetic liver susceptometry
    • Fischer R, Longo F, Nielsen P, Engelhardt R, Hider RC, Piga A. Monitoring long-term efficacy of iron chelation therapy by deferiprone and desferrioxamine in patients with beta-thalassaemia major: application of SQUID biomagnetic liver susceptometry. Br J Haematol 2003;121:938-948.
    • (2003) Br J Haematol , vol.121 , pp. 938-948
    • Fischer, R.1    Longo, F.2    Nielsen, P.3    Engelhardt, R.4    Hider, R.C.5    Piga, A.6
  • 118
    • 0042943205 scopus 로고    scopus 로고
    • Safety and effectiveness of long-term therapy with the oral iron chelator deferiprone
    • Cohen AR, Galanello R, Piga A, De Sanctis V, Tricta F. Safety and effectiveness of long-term therapy with the oral iron chelator deferiprone. Blood 2003;102:1583-1587.
    • (2003) Blood , vol.102 , pp. 1583-1587
    • Cohen, A.R.1    Galanello, R.2    Piga, A.3    De Sanctis, V.4    Tricta, F.5
  • 119
    • 0036721452 scopus 로고    scopus 로고
    • Lack of progressive hepatic fibrosis during long-term therapy with deferiprone in subjects with transfusion-dependent beta-thalassemia
    • Erratum in: Blood 2003;101:2460
    • Wanless IR, Sweeney G, Dhillon AP, et al. Lack of progressive hepatic fibrosis during long-term therapy with deferiprone in subjects with transfusion-dependent beta-thalassemia. Blood 2002;100:1566-1569. Erratum in: Blood 2003;101:2460.
    • (2002) Blood , vol.100 , pp. 1566-1569
    • Wanless, I.R.1    Sweeney, G.2    Dhillon, A.P.3
  • 120
    • 0037125595 scopus 로고    scopus 로고
    • Comparison of effects of oral deferiprone and subcutaneous desferri-oxamine on myocardial iron concentrations and ventricular function in beta-thalassaemia
    • Anderson LJ, Wonke B, Prescott E, Holden S, Walker JM, Pennell DJ. Comparison of effects of oral deferiprone and subcutaneous desferri-oxamine on myocardial iron concentrations and ventricular function in beta-thalassaemia. Lancet 2002;360:516-520.
    • (2002) Lancet , vol.360 , pp. 516-520
    • Anderson, L.J.1    Wonke, B.2    Prescott, E.3    Holden, S.4    Walker, J.M.5    Pennell, D.J.6
  • 121
    • 0038187626 scopus 로고    scopus 로고
    • Comparative effects of deferiprone and deferoxamine on survival and cardiac disease in patients with thalassemia major: A retrospective analysis
    • Piga A, Gaglioti C, Fogliacco E, Tricta F. Comparative effects of deferiprone and deferoxamine on survival and cardiac disease in patients with thalassemia major: a retrospective analysis. Haematologica 2003;88:489-496.
    • (2003) Haematologica , vol.88 , pp. 489-496
    • Piga, A.1    Gaglioti, C.2    Fogliacco, E.3    Tricta, F.4
  • 122
    • 33646407268 scopus 로고    scopus 로고
    • Cardiac morbidity and mortality in deferoxamine-or deferiprone-treated patients with thalas-semia major
    • Borgna-Pignatti C, Cappellini MD, De Stefano P, et al. Cardiac morbidity and mortality in deferoxamine-or deferiprone-treated patients with thalas-semia major. Blood 2006;107:3733-3737.
    • (2006) Blood , vol.107 , pp. 3733-3737
    • Borgna-Pignatti, C.1    Cappellini, M.D.2    De Stefano, P.3
  • 123
    • 0036068230 scopus 로고    scopus 로고
    • The safety and effectiveness of de-feriprone in a large-scale, 3-year study in Italian patients
    • Ceci A, Baiardi P, Felisi M, et al. The safety and effectiveness of de-feriprone in a large-scale, 3-year study in Italian patients. Br J Haematol 2002;118:330-336.
    • (2002) Br J Haematol , vol.118 , pp. 330-336
    • Ceci, A.1    Baiardi, P.2    Felisi, M.3
  • 124
    • 33646387405 scopus 로고    scopus 로고
    • Randomized controlled trial of deferiprone or deferoxamine in beta-thalassemia major patients with asymptomatic myocardial siderosis
    • Pennell DJ, Berdoukas V, Karagiorga M, et al. Randomized controlled trial of deferiprone or deferoxamine in beta-thalassemia major patients with asymptomatic myocardial siderosis. Blood 2006;107:3738-3744.
    • (2006) Blood , vol.107 , pp. 3738-3744
    • Pennell, D.J.1    Berdoukas, V.2    Karagiorga, M.3
  • 125
    • 34447316694 scopus 로고    scopus 로고
    • Light and shadows in the iron chelation treatment of haemato-logical diseases
    • Maggio A. Light and shadows in the iron chelation treatment of haemato-logical diseases. Br J Haematol 2007;138:407-421.
    • (2007) Br J Haematol , vol.138 , pp. 407-421
    • Maggio, A.1
  • 126
    • 36448937511 scopus 로고    scopus 로고
    • Deferiprone in the treatment of transfusion-dependent thalassemia: A review and perspective
    • Galanello R. Deferiprone in the treatment of transfusion-dependent thalassemia: a review and perspective. Ther Clin Risk Manag 2007;3: 795-805.
    • (2007) Ther Clin Risk Manag , vol.3 , pp. 795-805
    • Galanello, R.1
  • 127
    • 33646391919 scopus 로고    scopus 로고
    • Oral chelators deferasirox and deferiprone for transfusional iron overload in thalassemia major: New data, new questions
    • Neufeld EJ. Oral chelators deferasirox and deferiprone for transfusional iron overload in thalassemia major: new data, new questions. Blood 2006; 107:3436-3441.
    • (2006) Blood , vol.107 , pp. 3436-3441
    • Neufeld, E.J.1
  • 128
    • 49249111541 scopus 로고    scopus 로고
    • Once-daily oral deferasirox for the treatment of transfusional iron overload
    • Galanello R, Origa R. Once-daily oral deferasirox for the treatment of transfusional iron overload. Expert Rev Clin Pharmacol 2008;1:231-240.
    • (2008) Expert Rev Clin Pharmacol , vol.1 , pp. 231-240
    • Galanello, R.1    Origa, R.2
  • 129
    • 33646414765 scopus 로고    scopus 로고
    • A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia
    • Cappellini MD, Cohen A, Piga A, et al. A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia. Blood 2006;107:3455-3462.
    • (2006) Blood , vol.107 , pp. 3455-3462
    • Cappellini, M.D.1    Cohen, A.2    Piga, A.3
  • 130
    • 0031784438 scopus 로고    scopus 로고
    • Combined therapy with deferiprone and desferrioxamine
    • Wonke B, Wright C, Hoffbrand AV. Combined therapy with deferiprone and desferrioxamine. Br J Haematol 1998;103:361-364.
    • (1998) Br J Haematol , vol.103 , pp. 361-364
    • Wonke, B.1    Wright, C.2    Hoffbrand, A.V.3
  • 131
    • 27144560152 scopus 로고    scopus 로고
    • Combined therapy with deferiprone and desferrioxamine in thalassemia major
    • Origa R, Bina P, Agus A, et al. Combined therapy with deferiprone and desferrioxamine in thalassemia major. Haematologica 2005;90:1309-1314.
    • (2005) Haematologica , vol.90 , pp. 1309-1314
    • Origa, R.1    Bina, P.2    Agus, A.3
  • 132
    • 34247103036 scopus 로고    scopus 로고
    • A randomized, placebo-controlled, double-blind trial of the effect of combined therapy with deferoxamine and deferiprone on myocardial iron in thalassemia major using cardiovascular magnetic resonance
    • Tanner MA, Galanello R, Dessi C, et al. A randomized, placebo-controlled, double-blind trial of the effect of combined therapy with deferoxamine and deferiprone on myocardial iron in thalassemia major using cardiovascular magnetic resonance. Circulation 2007;115:1876-1884.
    • (2007) Circulation , vol.115 , pp. 1876-1884
    • Tanner, M.A.1    Galanello, R.2    Dessi, C.3
  • 133
    • 33847245863 scopus 로고    scopus 로고
    • Effects of combined deferiprone and desferrioxamine iron chelating therapy in beta-thalassemia major end-stage heart failure: A case report
    • Porcu M, Landis N, Salis S, et al. Effects of combined deferiprone and desferrioxamine iron chelating therapy in beta-thalassemia major end-stage heart failure: a case report. Eur J Heart Fail 2007;9:320-322.
    • (2007) Eur J Heart Fail , vol.9 , pp. 320-322
    • Porcu, M.1    Landis, N.2    Salis, S.3
  • 134
    • 44049102508 scopus 로고    scopus 로고
    • Combined deferiprone and desferrioxamine iron chelating therapy in beta-thalassemia major for the treatment of severe myocardial siderosis with left ventricular dysfunction
    • Tanner MA, Galanello R, Dessì C, et al. Combined deferiprone and desferrioxamine iron chelating therapy in beta-thalassemia major for the treatment of severe myocardial siderosis with left ventricular dysfunction. J Cardiovasc Magn Reson 2008;10:12.
    • (2008) J Cardiovasc Magn Reson , vol.10 , pp. 12
    • Tanner, M.A.1    Galanello, R.2    Dessì, C.3
  • 135
    • 63149177947 scopus 로고    scopus 로고
    • Long-term sequential deferiprone-deferoxamine versus deferiprone alone for thalassaemia major patients: A randomized clinical trial
    • Maggio A, Vitrano A, Capra M, et al. Long-term sequential deferiprone-deferoxamine versus deferiprone alone for thalassaemia major patients: a randomized clinical trial. Br J Haematol 2009;145:245-254.
    • (2009) Br J Haematol , vol.145 , pp. 245-254
    • Maggio, A.1    Vitrano, A.2    Capra, M.3
  • 136
    • 3042746877 scopus 로고    scopus 로고
    • Value of sequential monitoring of left ventricular ejection fraction in the management of thalassemia major
    • Davis BA, O'Sullivan C, Jarritt PH, Porter JB. Value of sequential monitoring of left ventricular ejection fraction in the management of thalassemia major. Blood 2004;104:263-269.
    • (2004) Blood , vol.104 , pp. 263-269
    • Davis, B.A.1    O'Sullivan, C.2    Jarritt, P.H.3    Porter, J.B.4
  • 138
    • 0037304503 scopus 로고    scopus 로고
    • Stem cell transplantation for hemoglobinopathies
    • Gaziev J, Lucarelli G. Stem cell transplantation for hemoglobinopathies. Curr Opin Pediatr 2003;15:24-31.
    • (2003) Curr Opin Pediatr , vol.15 , pp. 24-31
    • Gaziev, J.1    Lucarelli, G.2
  • 139
    • 29744432093 scopus 로고    scopus 로고
    • Unrelated bone marrow transplantation for beta-thalassemia patients: The experience of the Italian Bone Marrow Transplant Group
    • La Nasa G, Argiolu F, Giardini C, et al. Unrelated bone marrow transplantation for beta-thalassemia patients: the experience of the Italian Bone Marrow Transplant Group. Ann N Y Acad Sci 2005;1054:186-195.
    • (2005) Ann N y Acad Sci , vol.1054 , pp. 186-195
    • La Nasa, G.1    Argiolu, F.2    Giardini, C.3
  • 140
    • 0037443543 scopus 로고    scopus 로고
    • Related umbilical cord blood transplantation in patients with thalassemia and sickle cell disease
    • Locatelli F, Rocha V, Reed W, et al. Related umbilical cord blood transplantation in patients with thalassemia and sickle cell disease. Blood 2003;101:2137-2143.
    • (2003) Blood , vol.101 , pp. 2137-2143
    • Locatelli, F.1    Rocha, V.2    Reed, W.3
  • 141
    • 29744465280 scopus 로고    scopus 로고
    • Sibling donor cord blood transplantation for thalassemia major: Experience of the Sibling Donor Cord Blood Program
    • Walters MC, Quirolo L, Trachtenberg ET, et al. Sibling donor cord blood transplantation for thalassemia major: experience of the Sibling Donor Cord Blood Program. Ann N Y Acad Sci 2005;1054:206-213.
    • (2005) Ann N y Acad Sci , vol.1054 , pp. 206-213
    • Walters, M.C.1    Quirolo, L.2    Trachtenberg, E.T.3
  • 142
    • 0038162584 scopus 로고    scopus 로고
    • Fetal HLA typing in beta thalassaemia: Implications for haemopoietic stem-cell transplantation
    • Orofino MG, Argiolu F, Sanna MA, et al. Fetal HLA typing in beta thalassaemia: implications for haemopoietic stem-cell transplantation. Lancet 2003;362:41-42.
    • (2003) Lancet , vol.362 , pp. 41-42
    • Orofino, M.G.1    Argiolu, F.2    Sanna, M.A.3
  • 143
    • 33745126299 scopus 로고    scopus 로고
    • Understanding mechanisms of gamma-globin gene regulation to develop strategies for pharmacological fetal hemoglobin induction
    • Pace BS, Zein S. Understanding mechanisms of gamma-globin gene regulation to develop strategies for pharmacological fetal hemoglobin induction. Dev Dyn 2006;235:1727-1737.
    • (2006) Dev Dyn , vol.235 , pp. 1727-1737
    • Pace, B.S.1    Zein, S.2
  • 144
    • 33846005126 scopus 로고    scopus 로고
    • Molecular therapies in beta-thalassaemia
    • Quek L, Thein SL. Molecular therapies in beta-thalassaemia. Br J Haema-tol 2007;136:353-365.
    • (2007) Br J Haema-tol , vol.136 , pp. 353-365
    • Quek, L.1    Thein, S.L.2
  • 145
    • 0042237715 scopus 로고    scopus 로고
    • Hydroxyurea can eliminate transfusion requirements in children with severe beta-thalassemia
    • Bradai M, Abad MT, Pissard S, Lamraoui F, Skopinski L, de Montalembert M. Hydroxyurea can eliminate transfusion requirements in children with severe beta-thalassemia. Blood 2003;102:1529-1530.
    • (2003) Blood , vol.102 , pp. 1529-1530
    • Bradai, M.1    Abad, M.T.2    Pissard, S.3    Lamraoui, F.4    Skopinski, L.5    De Montalembert, M.6
  • 146
    • 6344240976 scopus 로고    scopus 로고
    • Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients
    • Yavarian M, Karimi M, Bakker E, Harteveld CL, Giordano PC. Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients. Haematologica 2004;89:1172-1178.
    • (2004) Haematologica , vol.89 , pp. 1172-1178
    • Yavarian, M.1    Karimi, M.2    Bakker, E.3    Harteveld, C.L.4    Giordano, P.C.5
  • 147
    • 33846196263 scopus 로고    scopus 로고
    • Therapeutic options for patients with severe beta-thalassemia: The need for globin gene therapy
    • Sadelain M, Boulad F, Galanello R, et al. Therapeutic options for patients with severe beta-thalassemia: the need for globin gene therapy. Hum Gene Ther 2007;18:1-9.
    • (2007) Hum Gene Ther , vol.18 , pp. 1-9
    • Sadelain, M.1    Boulad, F.2    Galanello, R.3
  • 148
    • 0037606048 scopus 로고    scopus 로고
    • A novel murine model of Cooley anemia and its rescue by lentiviral-mediated human beta-globin gene transfer
    • Rivella S, May C, Chadburn A, Rivière I, Sadelain M. A novel murine model of Cooley anemia and its rescue by lentiviral-mediated human beta-globin gene transfer. Blood 2003;101:2932-2939.
    • (2003) Blood , vol.101 , pp. 2932-2939
    • Rivella, S.1    May, C.2    Chadburn, A.3    Rivière, I.4    Sadelain, M.5
  • 149
    • 9444281434 scopus 로고    scopus 로고
    • Successful correction of the human beta-thalassemia major phenotype using a lentiviral vector
    • Puthenveetil G, Scholes J, Carbonell D, et al. Successful correction of the human beta-thalassemia major phenotype using a lentiviral vector. Blood 2004;104:3445-3453.
    • (2004) Blood , vol.104 , pp. 3445-3453
    • Puthenveetil, G.1    Scholes, J.2    Carbonell, D.3
  • 150
    • 32244434403 scopus 로고    scopus 로고
    • Correction of the sickle cell mutation in embryonic stem cells
    • Chang JC, Ye L, Kan YW. Correction of the sickle cell mutation in embryonic stem cells. Proc Natl Acad Sci USA 2006;103:1036-1040.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 1036-1040
    • Chang, J.C.1    Ye, L.2    Kan, Y.W.3
  • 151
    • 36248966518 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells from adult human fibroblasts by defined factors
    • Takahashi K, Tanabe K, Ohnuki M, et al. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 2007;131:861-872.
    • (2007) Cell , vol.131 , pp. 861-872
    • Takahashi, K.1    Tanabe, K.2    Ohnuki, M.3
  • 152
    • 34249908901 scopus 로고    scopus 로고
    • In vitro reprogramming of bibroblasts into a pluripotent ES-cell-like state
    • Wernig M, Meissner A, Foreman R, et al. In vitro reprogramming of bibroblasts into a pluripotent ES-cell-like state. Nature 2007;448:318-324.
    • (2007) Nature , vol.448 , pp. 318-324
    • Wernig, M.1    Meissner, A.2    Foreman, R.3
  • 153
    • 37549030199 scopus 로고    scopus 로고
    • Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin
    • Hanna J, Wernig M, Markoulaki S, et al. Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin. Science 2007;318:1920-1923.
    • (2007) Science , vol.318 , pp. 1920-1923
    • Hanna, J.1    Wernig, M.2    Markoulaki, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.