Induction of fetal globin in β-thalassemia: Cellular obstacles and molecular progress

Annals of the New York Academy of Sciences

Volumn 1054, Issue , 2005, Pages 257-265

  Perrine, Susan P ^a,b   Castaneda, Serguei A ^a   Boosalis, Michael S ^a   White, Gary L ^c   Jones, Brandon M ^a   Bohacek, Regine ^b  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Gene Regulation Laboratories Inc   (United States)

^c UNIVERSITY OF OKLAHOMA HEALTH SCIENCES CENTER   (United States)

Author keywords

Apoptosis; Erythropoietin; Fetal hemoglobin; Molecular signaling; Short chain fatty acid; Thalassemia

Indexed keywords

BUTYRIC ACID; HEMOGLOBIN CHAIN; HEMOGLOBIN F; IRON; RB 16; RECOMBINANT ERYTHROPOIETIN; SHORT CHAIN FATTY ACID; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; APOPTOSIS; BETA THALASSEMIA; CELL DEATH; CELL PROLIFERATION; CELL SURVIVAL; CHILD; CLINICAL ARTICLE; CLINICAL TRIAL; CONFERENCE PAPER; ERYTHROID CELL; ERYTHROID PRECURSOR CELL; GENE INDUCTION; GENE MUTATION; HUMAN; MOUSE; NONHUMAN; PILOT STUDY;

EID: 29744433240     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1196/annals.1345.033     Document Type: Conference Paper

References (40)

1. STEINBERG, M.H. & G.P. RODGERS. 2001. Pharmacologic modulation of fetal hemoglobin. Medicine 80: 328-344.
2. GALLO, E., P. MASSARO, R. MINIERO, et al. 1979. The importance of the genetic picture and globin synthesis in determining the clinical and haematological features of thalassaemia intermedia. Br. J. Haematol. 41: 211-221.
3. PEARSON, H.A., A.R. COHEN, P.J. GIARDINA, et al. 1996. The changing profile of homozygous β-thalassemia: demography, ethnicity, and age distribution of current North American patients and changes in two decades. Pediatrics 97: 352-356.
4. RACHMILEWITZ, E.A. & S.L. SCHRIER. 2001. Pathophysiology of β-thalassemia. In Disorders of Hemoglobin. M.H. Steinberg, B.G. Forget, D.R. Higgs & R.L. Nagel, Eds.: 233-251. Cambridge University Press. Cambridge.
5. GALANELLO, R., S. BARELLA, M.P. TURCO, et al. 1994. Serum erythropoietin and erythropoiesis in high and low fetal hemoglobin beta-thalassemia intermedia patients. Blood 83: 561-565.
6. YUAN, J., E. ANGELUCCI, G. LUCARELLI, et al. 1993. Accelerated programmed cell death (apoptosis) in erythroid precursors of patients with severe beta-thalassemia. Blood 82: 374-377.
7. ANGELUCCI, E., G. LUCARELLI, J. YUAN, et al. 1996. Programmed cell death (PCD) and ineffective erythropoiesis in Cooley's anemia. Blood 88: 22b.
8. CENTIS, F., L. TABELLINI, G. LUCARELLI, et al. 2000. The importance of erythroid expansion in determining the extent of apoptosis in erythroid precursors in patients with β-thalassemia major. Blood 96: 3624-3629.
9. DESIMONE, J., P. HELLER, L. HALL, et al. 1982. 5-Azacytidine stimulates fetal hemoglobin synthesis in anemic baboons. Proc. Natl. Acad. Sci. USA 79: 4428-4431.
10. DUNBAR, C., W. TRAVIS, Y.W. KAN, et al. 1989. 5-Azacytidine treatment in a beta thalassemia patient unable to be transfused due to multiple allo-antibodies. Br. J. Haematol. 74: 467-468.
11. JAENISCH, R., A. SCHNIEKE & K. HARBERS. 1985. Treatment of mice with 5-azacytidine efficiently activates silent retroviral genomes in different tissues. Proc. Natl. Acad. Sci. USA 82: 1451-1455.
12. KOSHY, M., L. DORN, L. BRESSLER, et al. 2000. 2-Deoxy 5-azacytidine and fetal hemoglobin induction in sickle cell anemia. Blood 96: 2379-2384.
13. +-thalassemia. N. Engl. J. Med. 307: 1469-1475.
14. LOWREY, C.H. & A.W. NIENHUIS. 1993. Brief report: treatment with azacitidine of patients with end-state β-thalassemia. N. Engl. J. Med. 329: 845-848.
15. FUCHAROEN, S., N. SIRITANARATKUL, P. WINICHAGOON, et al. 1996. Hydroxyurea increases Hb F levels and improves the effectiveness of erythropoiesis in beta thalassemia/Hb E disease. Blood 87: 887-892.
16. HAJJAR, F.M. & H.A. PEARSON. 1994. Pharmacological treatment of thalassemia-intermedia with hydroxyurea. J. Pediatr. 125: 490-492.
17. 1 arrest results from p21-independent disruption of retinoblastoma protein-mediated signals. Cell Growth Differ. 9: 465-474.
18. CARR, B.I., J.G. REILLY, S.S. SMITH, et al. 1984. The tumorigenicity of 5-azacytidine in the male Fischer rat. Carcinogenesis 5: 1583-1590.
19. DAS, P.M. & R. SINGAL. 2004. DNA methylation and cancer. J. Clin. Oncol. 22: 4632-4642.
20. GINDER, G., M.J. WHITTERS & J. K. POHLMAN. 1984. Activation of a chicken embryonic globin gene in adult erythroid cells by 5-azacytidine and sodium butyrate. Proc. Natl. Acad. Sci. USA 81: 3954-3957.
21. PERRINE, S.P., G. GINDER, D.V. FALLER, et al. 1993. A short-term trial of butyrate to stimulate fetal-globin-gene expression in the -globin disorders. N. Engl. J. Med. 328:129-131.
22. CONSTANTOULAKIS, P., G. KNITTER & G. STAMATOYANNOPOULOS. 1989. On the induction of fetal hemoglobin by butyrates: in vivo and in vitro studies with sodium butyrate and comparison of combination treatments with 5-AzaC and AraC. Blood 74: 1963-1971.
23. LIAKOPOULOU, E., C.A. BLAU, Q. LI, et al. 1995. Stimulation of fetal hemoglobin production by short chain fatty acids. Blood 86: 3227-3235.
24. COLLINS, A.F., G.J. DOVER & N.L. LUBAN. 1994. Increased fetal hemoglobin production in patients receiving valproic acid for epilepsy. Blood 84: 1690-1691.
25. COLLINS, A.F., H.A. PEARSON, P. GIARDINA, et al. 1995. Oral sodium phenylbutyrate therapy in homozygous beta thalassemia: a clinical trial. Blood 85: 39-43.
26. IKUTA, T., Y.W. KAN, P.S. SWERDLOW, et al. 1998. Alterations in protein-DNA interactions in the gamma-globin gene promoter in response to butyrate therapy. Blood 92: 2924-2933.
27. ATWEH, G.F., M. SUTTON, I. NASSIF, et al. 1999. Sustained induction of fetal hemoglobin by pulse butyrate therapy in sickle cell disease. Blood 93: 1790-1797.
28. LIAKOPOULOU, E., Q. LI & G. STAMATOYANNOPOULOS. 2002. Induction of fetal hemoglobin by propionic and butyric acid derivatives: correlations between chemical structure and potency of Hb F induction. Blood Cells Mol. Dis. 29: 48-56.
29. PACE, B.S., G.L. WHITE, G.J. DOVER, et al. 2002. Short-chain fatty acid derivatives induce fetal globin expression and erythropoiesis in vivo. Blood 100: 4640-4648.
30. SKARPIDI, E., H. CAO, B. HELTWEG, et al. 2003. Hydroxamide derivatives of short-chain fatty acids are potent inducers of human fetal globin gene expression. Exp. Hematol. 31: 197-203.
31. WEINBERG, R.S., X. JI, M. SUTTON, et al. 2005. Butyrate increases the efficiency of translation of gamma-globin mRNA. Blood 105: 1807-1809.
32. CAO, H., G. STAMATOYANNOPOULOS & M. JUNG. 2004. Induction of human gamma globin gene expression by histone deacetylase inhibitors. Blood 103: 701-709.
33. BOOSALIS, M.S., R. BANDYOPADHYAY, E.H. BRESNICK, et al. 2001. Short-chain fatty acid derivatives stimulate cell proliferation and induce STAT-5 activation. Blood 97: 3259-3267.
34. NISLI, G., K. KAVAKLI, C. VERGIN, et al. 1996. Recombinant human erythropoietin trial in thalassemia intermedia. J. Trop. Pediatr. 42: 330-334.
35. RACHMILEWITZ, E.A., M. AKER, D. PERRY & G. DOVER. 1995. Sustained increase in haemoglobin and red blood cells following long-term administration of recombinant human erythropoietin to patients with homozygous beta thalassemia. Br. J Haematol. 90: 341-345.
36. BOURANTAS, K., G. ECONOMOU & J. GEORGIOU. 1997. Administration of high doses of recombinant human erythropoietin to patients with beta-thalassemia intermedia: a preliminary trial. Eur. J. Haematol. 58: 22-25.
37. SINGER, S.T., N. SWEETERS, E. VICHINSKY, et al. 2003. A dose-finding and safety study of darbepoetin alfa (erythropoiesis stimulating protein) for the treatment of anemia in patients with thalassemia intermedia. Blood 102: 268a.
38. PERRINE, S.P., Y.M. YANG, A. PIGA, et al. 2002. Butyrate + EPO in beta thalassemia intermedia: interim findings of a phase II trial. Blood 100: 47a.
39. PERRINE, S.P., M.S. BOOSALIS, D.W. EMERY, et al. 2003. A pharmacophore model for screening Hb F-inducing agents. Blood 102: 122a.
40. LOWREY, C. 2005. Epigenetic modifications of the human β-globin LCR core elements and γ-globin gene promoters. Blood Cells Mol. Dis. 34: 104-105.