SEARCH:   Advanced

Blood, 1 November 2005, Vol. 106, No. 9, pp. 3251-3255. Prepublished online as a Blood First Edition Paper on June 9, 2005; DOI 10.1182/blood-2005-02-0593. This Article Full Text Full Text (PDF) All Versions of this Article: 2005-02-0593v1 106/9/3251    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 Premawardhena, A. Articles by Weatherall, D. J. Search for Related Content PubMed PubMed Citation Articles by Premawardhena, A. Articles by Weatherall, D. J. Related Collections Red Cells Gene Expression Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  RED CELLS A novel molecular basis for thalassemia intermedia poses new questions about its pathophysiology Anuja Premawardhena, Christopher A. Fisher, Nancy F. Olivieri, Shanthimala de Silva, Jackie Sloane-Stanley, William G. Wood, and David J. Weatherall From the Faculty of Medicine, University of Kelaniya, Ragama, Sri Lanka; the Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom; the Hemoglobinopathy Research, University Health Network, Toronto, Canada; and the Lady Ridgeway Hospital, Colombo, Sri Lanka. During a study of the molecular basis for severe forms of thalassemia in Sri Lanka, 2 patients were found to be heterozygous for thalassemia mutations. Further analysis revealed that one of them has a previously unreported molecular basis for severe thalassemia intermedia, homozygosity for quadruplicated globin genes in combination with heterozygous thalassemia. The other is homozygous for a triplicated globin gene arrangement and heterozygous for thalassemia. Their differences in clinical phenotype are explainable by the interaction of other genetic factors and, in particular, their early management. The clinical course of the 2 propositi underlines the importance of full genotyping and a long period of observation before treatment is instituted, particularly in patients with thalassemia intermedia associated with extended globin gene arrangements. The hemoglobin (Hb) F levels in these patients with severe thalassemia intermedia, compared with other forms of this condition in the Sri Lankan population and elsewhere, are unusually low, a consistent finding in extended globin gene interactions and in dominant thalassemia, raising the possibility that increased levels of HbF production in thalassemia may require mutations at both globin gene loci. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: H. P. J. Voon and J. Vadolas Controlling {alpha}-globin: a review of {alpha}-globin expression and its impact on {beta}-thalassemia Haematologica, December 1, 2008; 93(12): 1868 - 1876. [Abstract] [Full Text] [PDF]

	Copyright © 2005 by American Society of Hematology         Online ISSN: 1528-0020