Oral sodium phenylbutyrate therapy in homozygous β thalassemia: A clinical trial

Blood

Volumn 85, Issue 1, 1995, Pages 43-49

  Collins, Anne F ^b   Pearson, Howard A ^b   Giardina, Patricia ^b   McDonagh, Kevin T ^b   Brusilow, Saul W ^b   Dover, George J ^a  

^a Departments of Pediatrics Medicine Oncology and Radiation Oncology   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARYLBUTYRIC ACID DERIVATIVE; HEMOGLOBIN F; MESSENGER RNA;

ADULT; ARTICLE; BETA THALASSEMIA; CLINICAL ARTICLE; DRUG EFFICACY; DRUG RESPONSE; DRUG SCREENING; EDEMA; EPIGASTRIC PAIN; FEMALE; HEMOGLOBIN DETERMINATION; HOMOZYGOSITY; HUMAN; MALE; MEAN CORPUSCULAR VOLUME; ORAL DRUG ADMINISTRATION; PRIORITY JOURNAL; RETICULOCYTE; SPLENECTOMY;

EID: 0028870221     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v85.1.43.bloodjournal85143     Document Type: Article

References (42)

1. Zurlo MC, De Stefano P, Borgna-Pignatti C, Di Palma A, Piga A, Melevendi C, Di Gregorio F, Buratini MG, Terzoli S: Survival and causes of death in thalassemia major. Lancet 2:27, 1989
2. Lucarelli G, Galimberti M, Polchi P, Angelucci E, Baronciani D, Giardini C, Andreani M, Agostinelli F, Albertini F, Clift RA: Marrow transplantation in patients with thalassemia responsive to iron chelation therapy. N Engl J Med 329:840, 1993
3. Nienhuis AW, Ley TJ, Humphries RK, Young NS, Dover G: Pharmacological manipulation of fetal hemoglobin synthesis in patients with severe β-thalassemia. Ann NY Acad Sci 445:198, 1985
4. Stamatoyannopoulos JA, Nienhuis AW: Therapeutic approaches to hemoglobin switching in treatment of hemoglobinopathies. Annu Rev Med 43:497, 1992
5. + thalassemia. N Engl J Med 307:1469, 1982
6. Dunbar C, Travis W, Kan YW, Nienhuis A: 5-Azacytidine treatment in a β°-thalassemic patient unable to be transfused due to multiple alloantibodies. Br J Hematol 74:467, 1989
7. Lowrey CH, Nienhuis AW: Treatment with azacytidine of patients with end-stage β-thalassemia. N Engl J Med 329:845, 1993
8. McDonagh KT, Orringer EP, Dover GJ, Nienhuis AW: Hydroxyurea improves erythropoiesis in a patient with homozygous beta thalassemia. Clin Res 38:346A, 1990 (suppl, abstr)
9. Fucharoen S, Siritanaratkul N, Winichagoon P, Siriboon W, Chowathaworn J, Muangsup W, Chaicharoen S, Poolsup N, Chindavijak B, Pootrakul P, Piankijagum A, Schlechter AN, Rodgers GP: Hydroxyurea increases HbF levels and improves the effectiveness of erythropoiesis in β-thalassemia/HbE disease. Blood 82:357a, 1993 (suppl. abstr)
10. Rachmilewitz EA, Goldfarb A, Dover G: Administration of erythropoietin to patients with β thalassemia intermedia: A preliminary trial. Blood 78:1145, 1991 (letter)
11. Olivieri NF, Sheridan B, Freedman M, Dover G, Perrine S, Nagel RS: Trial of recombinant human erythropoietin in thalassemia intermedia. Blood 80:3258, 1992 (letter)
12. Orkin SH, Swan D, Leder P: Differential expression of α-and β-globin genes during differentiation of cultured erythroleukemic cells. J Biol Chem 250:8753, 1975
13. Anderson LC, Jokinen M, Gahmberg CG: Induction of erythroid differentiation in the human leukemia cell line K562. Nature 278:364, 1979
14. Samid D, Shack S, Sherman LT: Phenylacetate: A novel non-toxic inducer of tumor cell differentiation. Cancer Res 52:1988, 1992
15. Perrine SP, Miller BA, Faller DV, Cohen RA, Vichinsky EP, Hurst D, Lubin BH, Papayannopoulou Th: Sodium butyrate enhances fetal globin expression in erythroid progenitors of patients with HbSS and β-thalassemia. Blood 74:454, 1989
16. Fibach E, Prasanna P, Rodgers GP, Samid D: Enhanced fetal hemoglobin production by phenylacetate and 4-phenylbutyrate in erythroid precursors derived from normal blood donors and patients with sickle cell anemia and β-thalassemia. Blood 82:2203, 1993
17. Stamatoyannopoulos G, Nakamoto B, Josephson B, Li Q, Blau A, Liakapoulou E, Papayannopoulou Th, Brusilow S, Dover G: Acetate, a product of butyrate catabolism, stimulates γ-globin expression in adult cells in vivo and in culture. Blood 82:313a, 1993 (abstr)
18. Ginder GD, Whitters MJ, Pohlman JK: Activation of a chicken embryonic globin gene in adult erythroid cells by 5-azacytidine and sodium butyrate. Proc Natl Acad Sci USA 81:3954, 1984
19. Perrine SP, Rudolph A, Faller DV, Roman C, Cohen RA, Chen S-J, Kan YW: Butyrate infusions in the ovine fetus delay the biologic clock for globin gene switching. Proc Natl Acad Sci USA 85:8540, 1988
20. Constantoulakis P, Papayannopoulou Th, Stamatoyannopoulos G: Alpha-amino-N-butyric acid stimulates fetal hemoglobin in the adult. Blood 72:1961, 1988
21. Constantoulakis P, Knitter G, Stamatoyannopoulos G: On the induction of fetal hemoglobin by butyrates: In vivo and in vitro studies with sodium butyrate and comparison of combination treatment with 5-azaC and Ara C. Blood 74:1963, 1989
22. Blau CA, Constantoulakis P, Shaw CM, Stamatoyannopoulos G: Fetal hemoglobin induction with butyric acid: Efficacy and toxicity. Blood 81:529, 1993
23. Perrine SP, Greene MF, Faller DV: Delay in the fetal globin switch in infants of diabetic mothers. N Engl J Med 312:334, 1985
24. Perrine SP, Ginder GD, Faller DV, Dover GJ, Ikuta T, Witkowska HE, Cai S-P, Vichinsky EP, Olivieri NF: A short term trial of butyrate to stimulate fetal-globin-gene expression in the β-globin disorders. N Engl J Med 328:81, 1993
25. Sher GD, Entsuah B, Ginder G, Dover G, Little J, Donsky J, Berkovitch M, Lewis N, Chang L, Perrine S, Olivieri NF: Intravenous infusion of arginine butyrate increases γ-globin mRNA expression and F-reticulocytes in patients with homozygous β-thalassemia and sickle cell disease. Blood 82:312a, 1993 (suppl, abstr)
26. Costin D, Dover G, Oliveri N, Beutler E, Walsh CT, Torkelson S, Pantazis C, Brauer M, Faller DV, Perrine SP: Clinical use of the butyrate derivative isobutyramide in the β-globin disorders. Blood 82:357a, 1993 (suppl, abstr)
27. Perrine SP, Olivieri NF, Faller DV, Vichinsky EP, Dover GJ, Ginder GD: Butyrate derivatives: New agents for stimulating fetal globin production in the β-globin disorders. Am J Pediatr Hem Onc 16:67, 1994
28. Dover GJ, Brusilow SW, Samid D: Increased fetal hemoglobin in patients receiving sodium 4-Phenylbutyrate. N Engl J Med 327:569, 1992 (letter)
29. Dover GJ, Brusilow SW, Charache S: Induction of HbF production in subjects with sickle cell anemia by oral sodium phenylbutyrate. Blood 84:339, 1994
30. Little J, Tuchman M, Ginder GD: Elevated fetal hemoglobin levels in propionic acidemia. Clin Res 42:238A, 1994 (suppl, abstr)
31. Perrine S, Dover G, Costin D, Pantazis C, Embury S, Lazzari G, Vichinsky E, Daftari P, Xin A, Olivieri N: Correction of globin chain imbalance in thalassemia major by arginine butyrate therapy. Blood 82:312a, 1993 (suppl, abstr)
32. Brusilow SW: Treatment of urea cycle disorders, in Desnick RJ (ed): Treatment of Genetic Disease. New York, NY, Churchill-Livingstone, 1991, p 79
33. Coulter Electronics: How to handle abnormal blood results for Coulter Counter instruments. Miami, FL, Coulter Education Center, September 1985
34. Tichelli A, Grathwohl A, Driessen A, Mathys S, Pfefferkorn E, Regenass A, Schumacher P, Stebler C, Wernli M, Nissen C, Speck B: Evaluation of the Sysmex R-1000: An automated reticulocyte analyzer. J Clin Path 93:70, 1990
35. Dover GJ, Boyer SH, Bell WR: Microscopic method for assaying F-cell production: Illustrative changes during infancy and aplastic anemia. Blood 52:664, 1978
36. Huisman THJ, Jonxis JHP: The hemoglobinopathies: Techniques of identification, in Schwartz MK (ed): Clinical and biochemical analysis, vol 6. New York, NY, Dekker, 1977, p 192
37. Brusilow SW: Phenylacetylglutamine may replace urea as a vehicle for waste nitrogen excretion. Pediatr Res 29:147, 1991
38. Eisner T, Conner WE, Hicks K, Dodge KR, Rosenberg KR, Jones TH, Cohen M, Meinwald J: Stink of stinkpot turtle identified: Phenylalkanoic acids. Science 196:1347, 1977
39. Dover GJ, Smith KD, Chang YC, Purvis S, Mays A, Meyers DA, Sheils C, Serjeant G: Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2. Blood 80:816, 1992
40. Thein SL, Sampietro M, Rohde K, Rochette J, Weatherall DJ, Lathrop GM, Demenais F: Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers. Am J Hum Genet 54:214, 1994
41. Galanello R, Barella S, Turco MP, Giagu N, Cao A, Dore F, Liberato NL, Guarnone R, Barosi G: Serum erythropoietin and erythropoiesis in high- and low-fetal hemoglobin β-thalassemia intermedia patients. Blood 83:561, 1994
42. Collins AF, Luban NLC, Dover GJ: Increased fetal hemoglobin production in patients receiving valproic acid for epilepsy. Blood 84:1690, 1994 (letter)