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Blood, 15 February 2004, Vol. 103, No. 4, pp. 1518-1520. Prepublished online as a Blood First Edition Paper on October 23, 2003; DOI 10.1182/blood-2003-09-3222. This Article Full Text Full Text (PDF) All Versions of this Article: 2003-09-3222v1 103/4/1518    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Steensma, D. P. Articles by Higgs, D. R. Search for Related Content PubMed PubMed Citation Articles by Steensma, D. P. Articles by Higgs, D. R. Related Collections Neoplasia Red Cells Gene Expression Brief Reports Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  RED CELLS Brief report Deletion of the -globin gene cluster as a cause of acquired -thalassemia in myelodysplastic syndrome David P. Steensma, Vip Viprakasit, Alex Hendrick, David K. Goff, Joanne Leach, Richard J. Gibbons, and Douglas R. Higgs From the Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, United Kingdom; Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN; Department of Pediatrics Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand; Departments of Clinical and Laboratory Haematology, City Hospitals Sunderland NHS Trust, Tyne and Wear, United Kingdom. Rarely, myelodysplastic syndrome (MDS) is complicated by an acquired form of -thalassemia (-thalassemia in myelodysplastic syndrome [ATMDS]) characterized by hypochromic, microcytic, anisopoikilocytic red blood cells with hemoglobin H (HbH) inclusions. Acquired mutations in ATRX, a chromatin remodeling gene, have recently been found in 12 patients with typical features of ATMDS, though they have not been detected in MDS patients with similar red blood cell findings but little HbH. The -globin genes themselves have appeared normal in all ATMDS patients studied to date. Here we characterize the molecular defect in a unique MDS patient with rare HbH inclusions in which an abnormal clone lost a greater than 1.9-Mb segment of the telomeric region of the short arm of one allele of chromosome 16, including both -globin genes. Red blood cell changes associated with this acquired somatic genotype (––/) are surprisingly severe, demonstrating that a minor globin chain imbalance may be unexpectedly deleterious during the abnormal erythropoiesis that occurs in the context of MDS. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: The myelodysplastic syndromes: heterogeneneity on many levels Peter T. Curtin Blood 2004 103: 1181-1182. [Full Text] [PDF] This article has been cited by other articles: D. P. Steensma, R. J. Gibbons, and D. R. Higgs Acquired {alpha}-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies Blood, January 15, 2005; 105(2): 443 - 452. [Abstract] [Full Text] [PDF] D. P. Steensma, S. L. Allen, R. J. Gibbons, C. A. Fisher, and D. R. Higgs A Novel Splicing Mutation in the Gene Encoding the Chromatin-Associated Factor ATRX Associated with Acquired Hemoglobin H Disease in Myelodysplastic Syndrome (ATMDS). Blood (ASH Annual Meeting Abstracts), November 16, 2004; 104(11): 3606 - 3606. [Abstract]

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