New trends in the treatment of β-thalassemia

Critical Reviews in Oncology/Hematology

Volumn 33, Issue 2, 2000, Pages 105-118

  Rund, Deborah ^a   Rachmilewitz, Eliezer ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Thalassemia; Therapeutic modalities; Treatment trends

Indexed keywords

ANTIOXIDANT; BUTYRIC ACID DERIVATIVE; CHELATING AGENT; DEFERIPRONE; DEFEROXAMINE; ERYTHROPOIETIN; HEMIN; HEMOGLOBIN F; HYDROXYUREA; IRON; RECOMBINANT ERYTHROPOIETIN;

ALLOGENIC BONE MARROW TRANSPLANTATION; BETA THALASSEMIA; BLOOD TRANSFUSION; BONE MARROW TRANSPLANTATION; CHELATION THERAPY; ERYTHROCYTE; FETUS SURGERY; GENE THERAPY; HUMAN; PATHOPHYSIOLOGY; REVIEW; UMBILICAL CORD BLOOD;

BETA-THALASSEMIA; HUMANS; THERAPEUTICS;

EID: 0033952194     PISSN: 10408428     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1040-8428(99)00058-X     Document Type: Review

References (96)

1. Weatherall DJ, Clegg JB Thalassemia-a global public health problem. Nature. Med. 2:1996;847-849.
2. Borgna-Pignatti C, Rugolotto S, De Stefano P, Piga A, Di Gregorio F, Gamberini MR, Sabato V, Melevendi C, Cappellini MD, Verlato G Survival and disease complications in thalassemia major. Ann. N.Y. Acad. Sci. 850:1998;227-231.
3. Rund D, Rachmilewitz EA Advances in the pathophysiology and treatment of thalassemia. Crit. Rev. Oncol. Hematol. 20:1995;237-254.
4. Cazzola M, De Stefano P, Poncho F, Locatelli Y, Beguin Y Relationship between transfusion regimen and suppression of erythropoiesis in beta-thalassemia major. Br. J. Haematol. 89:1995;473-478.
5. Piomelli S The management of patients with Cooley's anemia: transfusions and splenectomy. Sem. Hematol. 32:1995;262-268.
6. De Montalembert M, Girot R, Mattlinger B, Lefrere J-J Transfusion-dependent thalassemia: viral complications (epidemiology and follow-up). Sem. Hematol. 32:1995;280-287.
7. Hershko C, Konijn AM, Link G Iron chelators for thalassemia. Br. J. Haematol. 101:1998;399-406.
8. Olivieri NF, Brittenham GM Iron-chelating therapy and the treatment of thalassemia. Blood. 89:1997;739-761.
9. Kontoghiorghes GJ New orally active iron chelators (letter). Lancet. 1:1985;817.
10. Kontoghiorghes GJ, Aldouri MA, Sheppard L, Hoffbrand AV 1,2-Dimethyl-3-hydroxypyrid-4-one, an orally active chelator for treatment of iron overload. Lancet. 1:1987;1294-1295.
11. Kontoghiorghes GJ, Bartlett AN, Hoffbrand AV et al. Long-term trial with the oral iron chelator 1,2-dimethyl-3-hydroxypyid-4-one (L1). Br. J. Haematol. 76:1990;295.
12. Shalev O, Repka T, Goldfarb A, Grinberg L, Abrahamov A, Olivieri NF, Rachmilewitz EA, Hebbel RP Deferiprone (L-1) chelates pathologic iron deposits from membranes of intact thalassemic and sickle RBC both in vitro and in vivo. Blood. 86:1995;2008-2013.
13. Olivieri NF Long term therapy with deferiprone. Acta Hematol. 95:1996;37-48.
14. Tondury P, Kontoghiorghes GJ, Ridolfi-Luthy A et al. L1 (1,2-dimethyl-3-hydroxpyrid-4-one) for oral iron chelation in patients with beta-thalassaemia major. Br. J. Haematol. 76:1990;550.
15. Agarwal MB, Gupte SS, Viswanathan C et al. Long-term assessment of efficacy and toxicity of L1 (1,2-dimethyl-3-hydroxypyrid-4-one) in transfusion dependent thalassemia: Indian trial. Drugs. Today. 28:1992;107.
16. Al-Rafaie FN, Wonke B, Hoffbrand AV et al. Efficacy and possible adverse effects of the oral iron chelator 1,2-dimethyl-3-hydroxypyrid-4-one (L1) in thalassaemia major. Blood. 80:1992;593-599.
17. Olivieri NF, Brittenham GM, Matsui D, Berkovitch M, Blendis LM, Cameron RG, McClelland RA, Liu PP, Templeton DM, Koren G Iron-chelation therapy with oral deferiprone in patients with thalassemia major. New. Engl. J. Med. 332:1995;918-922.
18. Olivieri NF, Gary MD, Brittenham GM, McLaren E, Templeton DM, Cameron RG, McClelland RA, Burt AD, Fleming KA Long-term safety and effectiveness of iron-chelation therapy with deferiprone for thalassemia major. New. Engl. J. Med. 339:1998;417-423.
19. Hoffbrand AV, Bartlett AN, Veys PA et al. Agranulocytosis and thrombocytopenia in patient with Blackfan-Diamond anaemia during oral chelator trial. Lancet. 2:1989;457.
20. Al-Refaie FN, Wonke B, Hoffbrand AV Deferiprone-associated myelotoxicity. Eur. J. Haematol. 53:1994;298-301.
21. Al-Refaie FN, Hershko C, Hoffbrand AV, Kosaryan M, Olivieri NF, Tondury P, Wonke B Results of long-term deferiprone (L1) therapy: a report by the international study group on oral iron chelators. Br. J. Haematol. 91:1995;224-229.
22. Piga A, Facello S, Gaglioti C, Pucci A, Pietribiasi F, Zimmerman A No progression of liver fibrosis in thalassemia major during deferiprone or desferrioxamine iron chelation. Blood. 92(2):1998;21b.
23. Grady RW, Berdoukas VA, Giardina P Iron Chelation: Combined therapy could be a better approach. Blood. 92(2):1998;16b.
24. Wonke B, Wright C, Hoffbrand AV Combined therapy with deferiprone and desferrioxamine. Br. J. Haematol. 103:1998;361-364.
25. Bergeron RJ, Wiegand J, Brittenham GM HBED: a potential alternative to deferoxamine for iron-chelating therapy. Blood. 91:1998;1446-1452.
26. Grady RW, Giardina PJ Oral iron chelation: HBED may yet prove to be a very useful agent. Blood. 92(2):1998;17b.
27. Bergeron RJ, Wiegand J, Brittenham GM HBED: the continuing development of a potential alternative to deferoxamine for iron-chelating therapy. Blood. 93:1999;370-375.
28. Al-Khatti A, Veith RW, Papayannopoulou T, Fritsch EF, Goldwasser E, Stamatoyannopoulos G Stimulation of fetal hemoglobin synthesis by erythropoietin in baboons. New. Eng. J. Med. 317:1987;415-420.
29. Olivieri NF, Weatherall DJ The therapeutic reactivation of fetal haemoglobin. Hum. Mol. Genet. 7:1998;1655-1658.
30. Charache S, Terrin ML, Moore RD, Dover GJ, Barton FB, Eckert SV, McMahon RP, Bonds DR Effect of hydroxyurea on frequency of painful crises in sickle cell anemia. New. Eng. J. Med. 332:1995;1317-1322.
31. Stamatoyannopoulos GA, Nienhuis AW Therapeutic approaches to hemoglobin switching-a treatment of hemoglobinopathies. Ann. Rev. Med. 43:1992;497-521.
32. Zeng Y-T, Huang S-Z, Ren Z-R, Lu Z-H, Zeng F-Y, Schechter AN, Rodgers GP Hydroxyurea therapy in beta-thalassaemia intermedia: improvement in haematological parameters due to enhanced beta-globin synthesis. Br. J. Haematol. 90:1995;557-563.
33. Loukopoulos D, Voskaridou E, Stamoulakatou A, Papassotiriou Y, Kalotychou V, Loutradi A, Cozma G, Tsiarta H, Pavlides N Hydroxyurea therapy in thalassemia. Ann. NY. Acad. Sci. 850:1998;120-128.
34. Alberto FL, Arruda VR, Lima CSP, Bordin S, Martins J, Saad STO, Costa FF Long-term hydroxyurea therapy in thalassemia intermedia and thalassemia major patients. Blood. 92(1):1998;366.
35. Arruda VR, Lima CS, Saad ST, Costa FF Successful use of hydroxyurea in beta-thalassemia major (letter). N. Engl. J. Med. 336:1997;964.
36. Steinberg MH Management of sickle cell disease. N. Engl. J. Med. 340:1999;1021-1030.
37. Rachmilewitz EA, Goldfarb A, Dover G Administration of erythropoietin to patients with beta thalassemia intermedia: A preliminary trial. Blood. 78:1991;1145-1147.
38. Olivieri NF, Freedman MH, Perrine SP, Dover GJ, Sheridan B, Essentine DL, Nagel RL Trial of recombinant human erythropoietin: three patients with thalassemia intermedia. Blood. 80:1992;3258-3260.
39. Rachmilewitz EA, Aker M, Perry D, Dover G Sustained increase in hemoglobin, RBC and hematocrit following long term administration of recombinant human erythropoietin to patients with beta thalassemia intermedia. Br. J. Haematol. 90:1995;341-345.
40. Nisli G, Kavakli K, Vergin C, Cetingul N Recombinant human erythropoietin trial in thalassemia intermedia. J. Trop. Pediatr. 42:1996;330-334.
41. Rachmilewitz EA, Aker M The role of recombinant human erythropoietin in the treatment of thalassemia. Ann. NY. Acad. Sci. 850:1998;129-138.
42. Perrine SP, Greene MF, Faller DV Delay in the fetal globin switch in infants of diabetic mothers. N. Engl. J. Med. 312:1985;334-338.
43. Ikuta T, Atweh G, Boosalis V, White GL, Da Fonseca S, Boosalis M, Faller DV, Perrine SP Cellular and molecular effects of a pulse butyrate regimen and new inducers of globin gene expression and hematopoiesis. Ann. NY. Acad. Sci. 850:1998;87-99.
44. Perrine SP, Olivieri NF, Faller DV, Vichinsky EP, Dover GJ, Ginder GD Butyrate derivatives: new agents for stimulating fetal globin production in the beta-globin disorders. Am. J. Pediatr. Hematol. Oncol. 16:1994;67-71.
45. Dover GJ Hemoglobin switching protocols in thalassemia: experience with sodium phenylbutyrate and hydroxyurea. Ann. NY. Acad. Sci. 850:1998;80-86.
46. Collins AF, Pearson HA, Giardina P, McDonagh KT, Brusilow SW, Dover GJ Oral sodium phenylbutyrate therapy in homozygous beta thalassemia: a clinical trial. Blood. 85:1995;43-49.
47. Sharma S, Nisbet-Brown E, Rees DR, Olivieri NF Sodium phenylbutyrate therapy in infants and children with thalassemia. Blood. 92(1):1998;530a.
48. Cappellini MD, Graziadei G, Ciceri L, Comino A, Bianchi P, Pomati M, Fiorelli G Butyrate trials. Ann. NY. Acad. Sci. 850:1998;110-119.
49. Fibach E, Prasanna P, Rodgers GP, Samid D Enhanced fetal hemoglobin production by phenylacelate and 4-phenylbutyrate in erythroid pecursors derived from normal donors and patients with sickle cell disease. Blood. 82:1993;2203-2206.
50. Fibach E, Kollia P, Schechter A, Noguchi C, Rodgers GP Hemin-induced acceleration of hemoglobin production in immature cultured erythroid cells: Preferential enhancement of fetal hemoglobin. Blood. 85:1995;2967-2974.
51. Rund D, Fibach E, Goldfarb A, Friedberg A, Rachmilewitz EA Heme arginate therapy for beta-thalassemia: in vitro and in vivo effects. Acta. Hemat. 100:1998;82-84.
52. Rodgers GP, Dover GJ, Uyesaka N, Noguchi C, Schechter AN, Nienhuis AW Augmentation by erythropoietin of the fetal hemoglobin response to hydroxyurea in sickle cell disease. New. Eng. J. Med. 328:1993;73-80.
53. Sutton M, Nassif I, Stamatoyannopoulos G, Perrine SP, Atweh G Absence of cross-resistance to the Hb F stimulating activities of butyrate and hydroxyurea. Blood. 92(1):1998;694a.
54. Scott MD, Eaton JW Thalassaemic erythrocytes: cellular suicide arising from iron and glutathione-dependent oxidation reactions? Br. J. Haematol. 91:1995;811-819.
55. Grinberg LN, Rachmilewitz EA, Newmark H Protective effects of rutin against hemoglobin oxidation. Biochemical. Pharmacology. 48:1994;643-649.
56. Grinberg LN, Newmark H, Kitrossky N, Rahamin E, Chevion M, Rachmilewitz EA Protective effects of tea polyphenols against oxidative damage to red blood cells. Biochem. Pharmacol. 54:1997;973-978.
57. Thomas ED, Bucker CD, Sanders JE Marrow transplantation for thalassemia. Lancet. 2:1982;227-229.
58. Piga A, Longo F, Voi V, Facello S, Miniero R, Dresow B Late effects of bone marrow transplantation for thalassemia. Ann. N.Y. Acad. Sci. 850:1998;294-299.
59. De Simone M, Olioso P, Di Bartolomeo P, Di Girolamo G, Farello G, Palumbo M, Papalinetti G, Bavaro P, Angrilli G, Torlontano G et al. Growth and endocrine function following bone marrow transplantation for thalassemia. Bone. Marrow. Transplant. 15:1995;227-233.
60. Cohen A, Van Lint MT, Uderzo C, Rovelli A, Lavagetto A, Vitale V, Morchio A, Locasciulli A, Bacigalupo A, Romano C Growth in patients after allogeneic bone marrow transplant for hematological diseases in childhood. Bone. Marrow. Transplant. 15:1995;343-348.
61. De Simone M, Di Bartolomeo P, Olioso P, Di Girolamo G, Palumbo M, Farello G, Aconito P, Papalinetti G, Bavaro P, Criscione S Growth after recombinant human growth hormone (rhGH) treatment in transplanted thalassemic patients. Bone. Marrow. Transplant. 20:1997;567-573.
62. Angelucci E, Muretto P, Lucarelli G, Ripalti M, Baronciani D, Erer B, Galimberti M, Giardini C, Gaziev D, Polchi P Phlebotomy to reduce iron overload in patients cured of thalassemia by bone marrow transplantation. Blood. 90:1997;994-998.
63. Giardini C, Galkimberti M, Lucarelli G, Polchi P, Angelucci E, Baronciani D, Gaziev D, Erer B, La Nasa G, Barbanti I, Muretto P Desferrioxamine therapy accelerates clearance of iron deposits after bone marrow transplantation for thalassemia. Br. J. Haemat. 89:1995;868-873.
64. Lucarelli G, Galimberti M, Giardini C, Polchi P, Angelucci E, Baronciani D, Erer B, Gaziev D Bone marrow transplantation in thalassemia: the experience of Pesaro. Ann. NY. Acad. Sci. 850:1998;270-275.
65. Lucarelli G, Giardini C, Baronciani D Bone marrow transplantation in thalassemia. Sem. Hematol. 32:1995;297-303.
66. Vellodi A, Picton S, Downie CJC, Eltumi M, Stevens R, Evans DIK Bone marrow transplantation for thalassemia: experience of two British centres. Bone. Marrow. Transpl. 13:1994;559-562.
67. Shing MMK, Yuen PMP, Li CK, Chik KW, Lai HDH, Tsang KS, Ng MHL, Tsoi WC A more immunosuppressive pre-transplant conditioning may be required for Chinese patients with thalassemia. Bone. Marrow. Transpl. 17:1996;907-910.
68. Boulad F, Giardina P, Gillio A, Kernan N, Small T, Brochstein J, Van Syckle K, George D, Szabolcs P, O'Reilly RJ Bone marrow transplantation for homozygous beta-thalassemia-the Memorial Sloan-Kettering Cancer Center Experience. Ann. NY. Acad. Sci. 850:1998;498-502.
69. Ghavamzadeh A, Nasseri P, Eshraghian MR, Jahani M, Baybordi I, Nateghi J, Khodabandeh A, Sadjadi AR, Mohyeddin M, Khademi Y Prognostic factors in bone marrow transplantation for beta thalassemia major: experiences from Iran. Bone. Marrow. Transplant. 22:1998;1167-1169.
70. Walters MC, Sullivan KM, O'Reilly RJ, Boulad F et al. Bone marrow transplantation for thalassemia. The USA experience. Am. J. Pediatr. Hematol. Oncol. 16:1994;11-17.
71. Gaziev D, Polchi P, Galimberti M, Angelucci E, Giardini C, Baronciani D, Erer B, Lucarelli G Graft-versus-host disease after bone marrow transplantation for thalassemia: an analysis of incidence and risk factors. Transplantation. 63:1997;854-860.
72. Lucarelli G, Clift RA, Galimberti M, Polchi P, Angelucci E, Baronciani D, Giardini C, Andreani M, Manna M, Nesci S, Agostinelli F, Rapa S, Ripalti M, Albertini F Marrow transplantation for patients with thalassemia: results in class 3 patients. Blood. 87:1996;2082-2088.
73. Lucarelli G, Clift RA, Galimberti M, Angelucci E, Giardini C, Baronciani D, Polchi P, Andreani M, Gaziev D, Erer B, Ciaroni A, D'Adamo F, Albertini F, Muretto P Bone marrow transplantation in adult thalassemic patients. Blood. 93:1999;1164-1167.
74. Issaragrisil S, Visuthisakchai S, Suvatte V, Tanphaichitr V, Chandanayingyong D, Schreiner T, Kanokpongsakdi S, Siritanaratkul N, Piankijagum A Brief report: transplantation of cord-blood stem cells into a patient with severe thalassemia. New. Engl. J. Med. 332:1995;367-369.
75. Gluckman E, Rocha V, Boyer-Chammard A, Locatelli F, Arcese W, Pasquini R, Ortega J, Souillet G, Ferreir AE, Laporte J-P, Fernandez M, Chastang C Outcome of cord-blood transplantation from related and unrelated donors. New. Engl. J. Med. 337:1997;373-381.
76. Miniero R, Rocha V, Saracco P, Locatelli F, Brichard B, Nagler A, Roberts I, Yaniv I, Beksac M, Bernaudin F, Gluckman E Cord blood transplantation (CBT) in hemoglobinopathies: Eurocord. Bone. Marrow. Transplant. 22:1998;S78-79.
77. Flake AW, Zanjani ED In utero transplantation for thalassemia. Ann. NY. Acad. Sci. 850:1998;300-311.
78. Touraine JL In-utero transplantation of fetal liver stem cells into human fetuses. Hum. Reprod. 7:1992;44-48.
79. Touraine JL, Raudrant D, Royo C, Rebaud A, Roncarolo MG, Souillet G, Philippe N, Touraine F, Betuel H In-utero transplantation of stem cells in bare lymphocyte syndrome (letter). Lancet. 1:1989;1382.
80. Westgren M, Ringden O, Eik-Nes S, Ek S, Anvret M, Brubakk A-M, Bui T-H, Giambona A, Kiserud T, Kjaeldgaard AMA, Markling L, Seiger A, Orlandi F Lack of evidence of permanent engraftment after in utero fetal stem cell transplantation in congenital hemoglobinopathies. Transplantation. 61:1996;1176-1179.
81. Hayward A, Ambruso D, Battaglia F, Donlon T, Eddelman K, Giller R, Hobbins J, Hsia YE, Quinones R, Shpall E, Trachtenberg E, Giardina P Michrochimerism and tolerance following intrauterine transplantation and transfusion for alpha-thalassemia-1. Fetal Diagn. Ther. 13:1998;8-14.
82. Costantini F, Chada K, Magram J Correction of murine beta-thalassemia by gene transfer into the germ line. Science. 233:1986;1192-1194.
83. Sadelain M Genetic treatment of the haemoglobinopathies: recombinations and new combinations. Br. J. Haematol. 98:1997;247-253.
84. Bodine DM, Dunbar CE, Girard LJ, Seidel NE, Cline AP, Donahue RE, Orlic D Improved amphotropic retrovirus-mediated gene transfer into hematopoietic stem cells. Ann. N.Y. Acad. Sci. 850:1998;139-150.
85. Pawliuk R, Bachelot T, Raftopoulos H, Kalberer C, Humphries RK, Bank A, Leboulch P Retroviral vectors aimed at the gene therapy of human beta-globin gene disorders. Ann. N.Y. Acad. Sci. 850:1998;151-162.
86. Ren S, Wong BY, Li J, Luo X-N, Wong PMC, Atweh GF Production of genetically stable high-titer retroviral vectors that carry a human beta-globin gene under the control of the alpha-globin locus control region. Blood. 87:1996;2518-2524.
87. Miller JL, Donahue RE, Sellers SE, Samulski RJ, Young NS, Nienhuis AW Recombinant adeno-associated virus (rAAV)-mediated expression of a human gamma-globin gene in human progenitor-derived erythroid cells. Proc. Natl. Acad. Sci. USA. 91:1994;10183-10187.
88. Einerhand MP, Antoniou M, Zolotukhin S, Muzyczka N, Berns KI, Grosveld F, Valerio D Regulated high-level human beta-globin gene expression in erythroid cells following recombinant adeno-associated virus mediated gene transfer. Gene Ther. 2:1995;336-343.
89. Hargrove P, Vanin EF, Kurtzman G, Nienhuis AW High level globin gene expression mediated by a recombinant adeno-associated virus genome which contains the 3′ gamma globin gene regulatory element and integrates as tandem copies in erythroid cells. Blood. 89:1997;2167-2175.
90. Hanania E, Giles R, Kavanagh J, Ellerson D, Zu A, Wang T, Su Y, Kudelka A, Rahman Z, Holmes F, Hortobagyi G, Claxton D, Bachier C, Thall P, Cheng S, Hester J, Ostrov J, Bird R, Chang A, Korbling M, Seong D, Cote R, Holzmayer T, Mechetner E, Heimfeld S, Berenson R, Burtness B, Edwards C, Bast R, Andreef M, Champlin R, Deisseroth A Results of MDR-1 vector modification trial indicate that granulocyte/macrophage colony-forming unit cells do not contribute to posttransplant hematopoietic recovery following intensive systemic therapy. Proc. Natl. Acad. Sci. USA. 93:1996;15346-15351.
91. Dalyot N, Oppenheim A. Efficient transfer of the complete human beta-globin gene into human and mouse hemopoeitic cells via SV40 pseudovirions, Gene Transf. Gene Ther. 1989;47.
92. Rund D, Dagan M, Dalyot-Herman N, Kimchi-Sarfaty C, Schoenlein P, Gottesman M, Oppenheim A Efficient transduction of human hematopoietic cells with the human multidrug resistance gene MDR1 using SV40 pseudovirions. Hum. Gene Ther. 9:1998;649-657.
93. Sandalon Z, Dalyot-Herman N, Oppenheim A, Oppenheim A In vitro assembly of SV40 pseudovirions: vector development for gene therapy. Hum. Gene. Ther. 8:1997;843-849.
94. Wang GM, Seidman MM, Glazer PM Mutagenesis in mammalian cells induced by triple helix formation and transcription-coupled repair. Science. 271:1996;802-805.
95. Sierakowska H, Sambade MJ, Agrawal S, Kole R Repair of thalassemic human beta-globin mRNA in mammalian cells by antisense oligonucleotides. Proc. Natl. Acad. Sci. USA. 93:1996;12840-12844.
96. Rund D, Rachmilewitz EA Thalassemia 1995: Older patients, new therapies. Blood Rev. 9:1995;25-32.