Acquired α-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies

Blood

Volumn 105, Issue 2, 2005, Pages 443-452

  Steensma, David P ^b   Gibbons, Richard J ^b   Higgs, Douglas R ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN; TRANS ACTING FACTOR; TRANSCRIPTION FACTOR ATRX; UNCLASSIFIED DRUG;

ACQUIRED ALPHA THALASSEMIA; ALPHA THALASSEMIA; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; EPIGENETICS; ERYTHROCYTE DISORDER; GENE CLUSTER; GENE DELETION; GENE EXPRESSION REGULATION; GENETIC DISORDER; HEMATOLOGIC MALIGNANCY; HEMATOPOIESIS; HEMOGLOBIN SYNTHESIS; HEMOGLOBINOPATHY; HUMAN; MOLECULAR GENETICS; MYELODYSPLASTIC SYNDROME; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SOMATIC MUTATION;

EID: 11244252826     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2004-07-2792     Document Type: Review

References (92)

1. Weatherall DJ, Clegg B. The Thalassaemia Syndromes. 4th ed. Malden, MA: Blackwell Science; 2001.
2. Nichols KE, Crispino JD, Poncz M, et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet. 2000;24:266-270.
3. Viprakasit V, Gibbons RJ, Broughton BC, et al. Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. Hum Mol Genet. 2001;10:2797-2802.
4. Perkins AC, Sharpe AH, Orkin SH. Lethal beta-thalassaemia in mice lacking the erythroid CACCC-transcription factor EKLF. Nature. 1995; 375:318-322.
5. Gibbons RJ, Pellagatti A, Garrick D, et al. Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). Nat Genet 2003;34:446-449.
6. Steensma DP, Higgs DR, Fisher CA, Gibbons RJ. Acquired somatic ATRX mutations in myelodysplastic syndrome associated with {alpha} thalassemia (ATMDS) convey a more severe hematologic phenotype thar germline ATRX mutations. Blood. 2004;103:2019-2026.
7. Li Q, Peterson KR, Fang X, Stamatoyannopoulos G. Locus control regions. Blood. 2002;100:3077-3086.
8. Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ. A review of the molecular genetics of the human alpha-globin gene cluster. Blood. 1989;73:1081-1104,
9. Bernini LF, Harteveld CL. Alpha-thalassaemia. Baillieres Clin Haematol. 1998;11:53-90.
10. Craddock CF, Vyas P, Sharpe JA, Ayyub H, Wood WG, Higgs DR. Contrasting effects of alpha and beta globin regulatory elements on chromatin structure may be related to their different chromosomal environments. EMBO J. 1995;14:1718-1726.
11. Smith ZE, Higgs DR. The pattern of replication at a human telomeric region (16p13.3): its relationship to chromosome structure and gene expression. Hum Mol Genet. 1999;8:1373-1386.
12. Higgs DR, Bowder DK. Clinical and laboratory features of the alpha-thalassemia syndromes. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. New York, NY: Cambridge University Press; 2001:431-469.
13. Huisman THJ, Carver MFH, Baysal E. A Syllabus of Thalassemia Mutations. Augusta, GA: The Sickle Cell Anemia Foundation; 1997.
14. Huisman THJ, Carver MFH, Efremov GD. A Syllabus of Human Hemoglobin Variants. Augusta, GA: The Sickle Cell Anemia Foundation; 1996.
15. Clegg JB, Weatherall DJ. Thalassemia and malaria: new insights into an old problem. Proc Assoc Am Physicians. 1999;111:278-282.
16. Viprakasit V, Kidd AM, Ayyub H, Horsley S, Hughes J, Higgs DR. De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia. Br J Haematol. 2003;120:867-875.
17. Gibbons RJ, Picketts DJ, Villard L, Higgs DR. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell. 1995;80:837-845.
18. Gibbons RJ, Brueton L, Buckle VJ, et al. Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). Am J Med Genet. 1995;55:288-299.
19. Gibbons RJ, Wada T. ATRX and X-linked α-thalassemia mental retardation syndrome. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, eds. Inborn Errors of Development. Oxford, United Kingdom: Oxford University Press; 2004:747-758.
20. Bradley TB, Ranney HM. Acquired disorders of hemoglobin. Prog Hematol. 1973;8:77-98.
21. Wood WG. Increased HbF in adult life. Baillieres Clin Haematol. 1993;6:177-213.
22. Aksoy M, Erdem S. Decrease in the concentration of haemoglobin A2 during erythroleukaemia. Nature. 1967;213:522-523.
23. Bourantas KL, Georgiou I, Seferiadis K. Quantitation of HBF gamma-chain types by HPLC in patients with myelodysplastic syndrome. Haematologica. 1991;76:337-338.
24. Weinberg RS, Leibowitz D, Weinblatt ME, Kochen J, Alter BP. Juvenile chronic myelogenous leukaemia: the only example of truly fetal (not fetal-like) erythropoiesis. Br J Haematol. 1990;76:307-310.
25. Papayannopoulou T, Nakamoto B, Anagnou NP, Chui D, Dow L, Sanders J. Expression of embryonic globins by erythroid cells in juvenile chronic myelocytic leukemia. Blood. 1991;77:2569-2576.
26. Markham RE, Butler F, Goh K, Rowley PT. Erythroleukemia manifesting delta beta-thalassemia. Hemoglobin. 1983;7:71-78.
27. Hoyle C, Kaeda J, Leslie J, Luzzatto L. Acquired beta thalassaemia trait in MDS. Br J Haematol. 1991;79:116-117.
28. Higgs DR, Wood WG, Barton C, Weatherall DJ. Clinical features and molecular analysis of acquired hemoglobin H disease. Am J Med. 1983;75:181-191.
29. White JC, Ellis M, Coleman PN, et al. An unstable haemoglobin associated with some cases of leukaemia. Br J Haematol. 1960;6:171-177.
30. Bergren WR, Sturgeon PH. Hemoglobin H: some additional findings. Abstract presented at: VII Congress of the International Society of Hematology, Rome, Italy, September 7-14, 1958.
31. Anagnou NP, Ley TJ, Chesbro B, et al. Acquired alpha-thalassemia in preleukemia is due to decreased expression of all four alpha-globin genes. Proc Natl Acad Sci U S A. 1983;80:6051-6055.
32. Beaven GH, Stevens BL, Dance N, White JC. Occurrence of haemoglobin H in leukaemia. Nature. 1963;199:1297-1298.
33. Labie D, Rosa J, Tanzer J, et al. Evidence for B4 and G4 hemoglobins associated with acute myeloblastic anemia [abstract M-1], Proceedings of the XII Congress of the International Society of Hematology. 1968:3.
34. Rosenzweig AI, Heywood JD, Motulsky AG, Finch CA. Hemoglobin H as an acquired defect of alpha-chain synthesis: report of two cases. Acta Haematol. 1968;39:91-101.
35. Hamilton RW, Schwartz E, Atwater J, Erslev AJ. Acquired hemoglobin H disease. N Engl J Med. 1971;285:1217-1221.
36. Andre R, Najman A, Duhamel G, et al. Erythroleukemia with acquired hemoglobin H and abnormalities of erythrocyte antigens [in French]. Nouv Rev Fr Hematol. 1972;12:29-42.
37. Najman A, Breton-Gorius J, Turpin F, Duhamel G, Andre R. Double erythrocyte population in erythroleukemia with hemoglobin H: study by electron microscope and microspectrophotometry [in French]. Nouv Rev Fr Hematol. 1972;12:43-63.
38. Beaven GH, Coleman PN, White JC. Occurrence of haemoglobin H in leukaemia: a further case of erythroleukaemia. Acta Haematol. 1978;59:37-44.
39. Boehme WM, Piira TA, Kurnick JE, Bethlenfalvay NC. Acquired hemoglobin H in refractor sideroblastic anemia: a preleukemic marker. Arch Intern Med. 1978;138:603-606.
40. Lindsey RJ, Jackson JM, Raven JL. Acquired haemoglobin H disease, complicating a myeloproliferative syndrome: a case report. Pathology. 1978;10:329-334.
41. Weatherall DJ, Old J, Longley J, et al. Acquired haemoglobin H disease in leukemia: pathophysiology and molecular basis. Br J Haematol. 1978; 38:305-322.
42. Tanaka M, Fujiwara Y, Hirota Y. Globin chain synthesis in acquired hemoglobin H disease. Nippon Ketsueki Gakkai Zasshi. 1979;42:9-15.
43. Veer A, Kosciolek BA, Bauman AW, Rowley PT. Acquired hemoglobin H disease in idiopathic myelofibrosis. Am J Hematol. 1979;6:199-206.
44. Villegas A, Perez Gutierrez A, Diaz Mediavilla J, Espinos D. Observations of alpha-thalassemia and hemoglobin H in Spaniards (author's translation) [in Spanish]. Sangre (Barc). 1979;24:1088-1102.
45. Dash S, Dash RJ. Idiopathic myelofibrosis without splenomegaly and with an acquired haemoglobin disorder. Indian J Cancer. 1980:17:193-195.
46. Higgs DR, Old JM, Pressley L, Clegg JB, Weatherall DJ. A novel alpha-globin gene arrangement in man. Nature. 1980;284:632-635.
47. Nakatsuji T, Matsumoto N, Miwa S, et al. Acquired hemoglobin H disease associated with idiopathic myelofibrosis and hereditary adenosine deaminase deficiency. Nippon Ketsueki Gakkai Zasshi. 1980;43:92-98.
48. Yoo D, Schechter GP, Amigable AN, Nienhuis AW. Myeloproliferative syndrome with sideroblastic anemia and acquired hemoglobin H disease. Cancer. 1980;45:78-83.
49. Kueh YK. Acute lymphoblastic leukemia with brilliant cresyl blue erythrocytic inclusions-acquired hemoglobin H? N Engl J Med. 1982;307:193-194.
50. Annino L, Di Giovanni S, Tentori L Jr, et al. Acquired hemoglobin H disease in a case of refractory anemia with excess of blasts (RAEB) evolving into acute nonlymphoid leukemia. Acta Haematol. 1984;72:41-44.
51. Tokuda K, Kyoshoin K, Kitajima K, et al. A case of sideroblastic anemia associated with acquired hemoglobin H [in Japanese]. Nippon Ketsueki Gakkai Zasshi. 1984;47:1396-1400.
52. Oshimi K, Takahashi M, Mizoguchi H, Yamamoto K, Miyaji T. A case of acquired hemoglobin H disease [in Japanese]. Rinsho Ketsueki. 1985;26:1845-1848.
53. Helder J, Deisseroth A. S1 nuclease analysis of alpha-globin gene expression in preleukemic patients with acquired hemoglobin H disease after transfer to mouse erythroleukemia cells. Proc Natl Acad Sci U S A. 1987;84:2387-2390.
54. Abbondanzo SL, Anagnou NP, Sacher RA. Myelodysplastic syndrome with acquired hemoglobin H disease: evolution through megakaryoblastic transformation into myelofibrosis. Am J Clin Pathol. 1988;89:401-406.
55. Villegas A, Calero F, Espinos D. Hemoglobin H disease and refractory anemia [abstract] [in Spanish], Sangre (Barc). 1988;33:58.
56. Yoshida N, Horikoshi A, Kanemaru M, et al. An erythremia with acquired HbH disease and chromosomal abnormality [in Japanese]. Rinsho Ketsueki. 1990;31:963-968.
57. Agarwal MB, Agarwal UM, Pai BM. Acquired haemoglobin H disease in a case of myelodysplastic syndrome. J Assoc Physicians India. 1991;39:769-770.
58. Burgi W, Schlup P, Deubelbeiss KA, Fischer S, Killer D. Acquired hemoglobin H disease in the early stage of erythroleukemia [in German]. Schweiz Med Wochenschr. 1992;122:348-350.
59. Mercieca J, Bain B, Barbour G, Catovsky D. Teaching cases from the Royal Marsden and St. Mary's Hospitals: case 10 microcytic anaemia and thrombocytosis. Leuk Lymphoma. 1996;21:182, 185-186.
60. Alli NA, Wainwright L, Mendelow BV. Acquired haemoglobin H syndrome in Fanconi's anaemia with myelodysplastic disease [abstract]. Br J Haematol. 2002;117:8. Abstract 21.
61. Steensma DP, Viprakasit V, Hendrick A, et al. Deletion of the α-globin gene cluster as a cause of acquired α-thalassemia in myelodysplastic syndrome. Blood. 2004;103:1518-1520.
62. Aul C, Gattermann N, Germing U, Runde V, Heyll A. Myelodysplastic syndromes: the epidemiological and etiological aspects [in German]. Dtsch Med Wochenschr. 1992;117:1223-1231.
63. Maynadie M, Verret C, Moskovtchenko P, et al. Epidemiological characteristics of myelodysplastic syndrome in a well-defined French population. Br J Cancer. 1996;74:288-290.
64. Bennett JM, Catovsky D, Daniel MT, et al. Proposals for the classification of the myelodysplastic syndromes. Br J Haematol. 1982;51:189-199.
65. Craddock CF. Normal and abnormal regulation of human alpha globin gene expression [dissertation]. Oxford, England: Lincoln College, University of Oxford; 1994.
66. Greenberg P, Cox C, LeBeau MM, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89:2079-2088.
67. Davis BH. Diagnostic utility of red blood cell flow cytometric analysis. Clin Lab Med. 2001;21:829-840.
68. Benesch RE, Ranney HM, Benesch R, Smith GM. The chemistry of the Bohr effect, II: some properties of hemoglobin H. J Biol Chem. 1961; 236:2926-2929.
69. Peters RE, May A, Jacobs A. Increased alpha: non-alpha globin chain synthesis ratios in myelodysplastic syndromes and myeloid leukaemia. J Clin Pathol. 1986;39:1233-1235.
70. Boultwood J, Wainscoat JS. Clonality in the myelodysplastic syndromes. Int J Hematol. 2001;73:411-415.
71. Steensma DP, Higgs DR, Fisher CA, Gibbons RJ. Acquired somatic ATRX mutations in myelodysplastic syndrome associated with {alpha} thalassemia (ATMDS) convey a more severe hematological phenotype than germline ATRX mutations. Blood. 2004;103:2019-2026.
72. Picketts DJ, Tastan AO, Higgs DR, Gibbons RJ. Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains. Mamm Genome. 1998;9:400-403.
73. Gibbons RJ, Bachoo S, Picketts DJ, et al. Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Nat Genet. 1997;17:146-148.
74. Egger G, Liang G, Aparicio A, Jones PA. Epigenetics in human disease and prospects for epigenetic therapy. Nature. 2004;429:457-463.
75. Herman JG, Baylin SB. Gene silencing in cancer in association with promoter hypermethylation. N Engl J Med. 2003;349:2042-2054.
76. Xue Y, Gibbons R, Yan Z, et al. The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies. Proc Natl Acad Sci USA. 2003;100:10635-10640.
77. McDowell TL, Gibbons RJ, Sutherland H, et al. Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. Proc Natl Acad Sci USA. 1999;96:13983-13988.
78. James TC, Elgin SC. Identification of a nonhistone chromosomal protein associated with heterochromatin in Drosophila melanogaster and its gene. Mol Cell Biol. 1986;6:3862-3872.
79. Lachner M, O'Carroll D, Rea S, Mechtler K, Jenuwein T, Research Institute of Molecular Pathology TVBVA. Methylation of histone H3 lysine 9 creates a binding site for HP1 proteins. Nature. 2001;410:116-120.
80. Maison C, Almouzni G. HP1 and the dynamics of heterochromatin maintenance. Nat Rev Mol Cell Biol. 2004;5:296-304.
81. Tang J, Wu S, Liu H, et al. A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein. J Biol Chem. 2004;279:20369-20377.
82. Ishov AM, Vladimirova OV, Maul GG. Heterochromatin and ND10 are cell-cycle regulated and phosphorylation-dependent alternate nuclear sites of the transcription repressor Daxx and SWI/SNF protein ATRX. J Cell Sci. 2004;117:3807-3820.
83. Zhong S, Salomoni P, Pandolfi PP. The transcriptional role of PML and the nuclear body. Nat Cell Biol. 2000;2:E85-E90.
84. Bernardi R, Pandolfi PP. Role of PML and the PML-nuclear body in the control of programmed cell death. Oncogene. 2003;22:9048-9057.
85. Wang J, Shiels C, Sasieni P, et al. Promyelocytic leukemia nuclear bodies associate with transcriptionally active genomic regions. J Cell Biol. 2004; 164:515-526.
86. Cardoso C, Timsit S, Villard L, Khrestchatisky M, Fontes M, Colleaux L. Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein. Hum Mol Genet. 1998;7:679-684.
87. Gibbons RJ, McDowell TL, Raman S, et al. Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation. Nat Genet. 2000;24:368-371.
88. Bérubé NG, Mangelsdorf M, Jagla M et al. The chromatin remodeling protein ATRX is critical for neuronal survival during corticogenesis. J Clin Invest. In press.
89. Uchida T, Kinoshita T, Nagai H, et al. Hypermethylation of the p15/NK4B gene in myelodysplastic syndromes. Blood. 1997;90:1403-1409.
90. Leone G, Teofili L, Voso MT, Lubbert M. DNA methylation and demethylating drugs in myelodysplastic syndromes and secondary leukemias. Haematologica. 2002;87:1324-1341.
91. Quesnei B, Guillerm G, Vereecque R, et al. Methylation of the p15(INK4b) gene in myelodysplastic syndromes is frequent and acquired during disease progression. Blood. 1998;91:2985-2990.
92. Socie G, Mary JY, deGramont A, et al. Paroxysmal nocturnal haemoglobinuria: long-term follow-up and prognostic factors: French Society of Haematology. Lancet. 1996;348:573-577.