Deletion of the α-globin gene cluster as a cause of acquired α-thalassemia in myelodysplastic syndrome

Blood

Volumn 103, Issue 4, 2004, Pages 1518-1520

  Steensma, David P ^a   Viprakasit, Vip ^b   Hendrick, Alex ^b   Goff, David K ^b   Leach, Joanne ^b   Gibbons, Richard J ^b   Higgs, Douglas R ^b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN;

AGED; ALLELE; ALPHA GLOBIN GENE; ALPHA THALASSEMIA; ARTICLE; ATRX GENE; CASE REPORT; CHROMATIN REMODELING GENE; CHROMOSOME 16; ERYTHROCYTE STRUCTURE; ERYTHROPOIESIS; GENE; GENE CLUSTER; GENE DELETION; GENOTYPE; HEMOGLOBIN DETERMINATION; HUMAN; MALE; MOLECULAR CLONING; MYELODYSPLASTIC SYNDROME; PRIORITY JOURNAL; TELOMERE;

EID: 0842328812     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-09-3222     Document Type: Article

References (24)

1. Steensma DP, Tefferi A. The myelodysplastic syndrome(s): a perspective and review highlighting current controversies. Leuk Res. 2003;27:95-120.
2. Juneia SK, Imbert M, Jouault H, Scoazec JY, Sigaux F, Sultan C. Haematological features of primary myelodysplastic syndromes (PMDS) at initial presentation: a study of 118 cases. J Clin Pathol. 1983;36:1129-1135.
3. 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.
4. White JC, Ellis M, Coleman PN, et al. An unstable haemoglobin associated with some cases of leukaemia. Br J Haematol. 1960;6:171-177.
5. 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.
6. 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.
7. 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.
8. 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.
9. Steensma DP, Higgs DR, Fisher CA, Gibbons RJ. Acquired somatic ATRX mutations in myelodysplastic syndrome associated with α thalassemia (ATMDS) convey a more severe hematological phenotype than germline ATRX mutations. Blood. Prepublished October 30, 2003;DOI 10.1182/blood-2003-09-3360.
10. Clegg JB, Naughton MA, Weatherall DJ. Separation of the alpha and beta-chains of human hemoglobin. Nature. 1968;219:69-70.
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. Jarman AP, Nicholls RD, Weatherall DJ, Clegg JB, Higgs DR. Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster. EMBO J. 1986;5:1857-1863.
13. Jarman AP, Higgs DR. A new hypervariable marker for the human alpha-globin gene cluster. Am J Hum Genet. 1988;43:249-256.
14. Varawalla NY, Fitches AC, Old JM. Analysis of beta-globin gene haplotypes in Asian Indians: origin and spread of beta-thalassaemia on the Indian subcontinent. Hum Genet. 1992;90:443-449.
15. Viprakasit V, Tanphaichitr VS, Pung-Amritt P, et al. Clinical phenotypes and molecular characterization of Hb H-Pakse disease. Haematologica. 2002;87:117-125.
16. Boultwood J, Wainscoat JS. Clonality in the myelodysplastic syndromes. Int J Hematol. 2001;73:411-415.
17. Ohyashiki K, Iwama H, Yahata N, et al. Telomere dynamics in myelodysplastic syndromes and acute leukemic transformation. Leuk Lymphoma. 2001;42:291-299.
18. Maeck L, Haase D, Schoch C, Hiddemann W, Alves F. Genetic instability in myelodysplastic syndrome: detection of microsatellite instability and loss of heterozygosity in bone marrow samples with karyotype alterations. Br J Haematol. 2000;109:842-846.
19. Olney HJ, Le Beau MM. The cytogenetics of myelodysplastic syndromes. Best Pract Res Clin Haematol. 2001;14:479-495.
20. Wang H, Chuhjo T, Yasue S, Omine M, Nakao S. Clinical significance of a minor population of paroxysmal nocturnal hemoglobinuria-type cells in bone marrow failure syndrome. Blood. 2002;100:3897-3902.
21. Boivin P, Galand C, Hakim J, Kahn A. Acquired erythroenzymopathies in blood disorders: study of 200 cases. Br J Haematol. 1975;31:531-543.
22. Ishida F, Shimodaira S, Kobayashi H, et al. Elliptocytosis in myelodysplastic syndrome associated with translocation (1;5)(p10;q10) and deletion of 20q. Cancer Genet Cytogenet. 1999;108:162-165.
23. Levine MN, Kuhns WK, Bolk TA, Beyer TA, Rosse WF. Acquired alteration in the expression of blood groups in a patient with sideroblastic anemia and chronic renal failure. Transfusion. 1984;24:8-12.
24. Janvier D, Guignier F, Reviron M, Benbunan M. Concomitant exposure of Tn and Th cryptantigens on the red cells of a patient with myelodysplasia. Vox Sang. 1991;61:142-143.