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Blood, 1 May 2004, Vol. 103, No. 9, pp. 3296-3299. Prepublished online as a Blood First Edition Paper on January 8, 2004; DOI 10.1182/blood-2003-11-3957. This Article Full Text Full Text (PDF) Supplemental Data All Versions of this Article: 2003-11-3957v1 103/9/3296    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 Viprakasit, V. Articles by Higgs, D. R. Search for Related Content PubMed PubMed Citation Articles by Viprakasit, V. Articles by Higgs, D. R. Related Collections Red Cells Gene Expression Brief Reports Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  CLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS Brief report Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with thalassemia Vip Viprakasit, Voravarn S. Tanphaichitr, Worrawut Chinchang, Pakarat Sangkla, Mitchell J. Weiss, and Douglas R. Higgs From the Department of Pediatrics and Siriraj-Thalassemia Research Program, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand; the MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, United Kingdom; the Department of Pediatrics, Surin General Hospital, Thailand; and the Children's Hospital of Philadelphia, Division of Hematology, and the University of Pennsylvania, Philadelphia. Although thalassemia is considered to be a classic monogenic disease, it is clear that there is considerable clinical variability between patients who inherit identical globin gene mutations, suggesting that there may be a variety of genetic determinants influencing different clinical phenotypes. It has been suggested that variations in the structure or amounts of a highly expressed red cell protein (alpha hemoglobin stabilizing protein [AHSP]), which can stabilize free globin chains in vitro, could influence disease severity in patients with thalassemia. To address this hypothesis, we studied 120 patients with Hb E- thalassemia with mild, moderate, or severe clinical phenotypes. Using gene mapping, direct genomic sequencing, and extended haplotype analysis, we found no mutation or specific association between haplotypes of AHSP and disease severity in these patients, suggesting that AHSP is not a disease modifier in Hb E- thalassemia. It remains to be seen if any association between AHSP and clinical severity is present in other population groups with a high frequency of thalassemia. (Blood. 2004;103:3296-3299) CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: X. Yu, T. L. Mollan, A. Butler, A. J. Gow, J. S. Olson, and M. J. Weiss Analysis of human {alpha} globin gene mutations that impair binding to the {alpha} hemoglobin stabilizing protein Blood, June 4, 2009; 113(23): 5961 - 5969. [Abstract] [Full Text] [PDF] M. J. Weiss and C. O. dos Santos Chaperoning erythropoiesis Blood, March 5, 2009; 113(10): 2136 - 2144. [Abstract] [Full Text] [PDF] 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] A. Mai, K. Jelicic, D. Rotili, A. Di Noia, E. Alfani, S. Valente, L. Altucci, A. Nebbioso, S. Massa, R. Galanello, et al. Identification of Two New Synthetic Histone Deacetylase Inhibitors That Modulate Globin Gene Expression in Erythroid Cells from Healthy Donors and Patients with Thalassemia Mol. Pharmacol., November 1, 2007; 72(5): 1111 - 1123. [Abstract] [Full Text] [PDF] A. M. Pilon, D. G. Nilson, D. Zhou, J. Sangerman, T. M. Townes, D. M. Bodine, and P. G. Gallagher Alterations in expression and chromatin configuration of the alpha hemoglobin-stabilizing protein gene in erythroid kruppel-like factor-deficient mice. Mol. Cell. Biol., June 1, 2006; 26(11): 4368 - 4377. [Abstract] [Full Text] [PDF] P. G. Gallagher, R. I. Liem, E. Wong, M. J. Weiss, and D. M. Bodine GATA-1 and Oct-1 Are Required for Expression of the Human {alpha}-Hemoglobin-stabilizing Protein Gene J. Biol. Chem., November 25, 2005; 280(47): 39016 - 39023. [Abstract] [Full Text] [PDF] S. L. Thein Pathophysiology of {beta} Thalassemia--A Guide to Molecular Therapies Hematology, January 1, 2005; 2005(1): 31 - 37. [Abstract] [Full Text] [PDF] C. M. Santiveri, J. M. Perez-Canadillas, M. K. Vadivelu, M. D. Allen, T. J. Rutherford, N. A. Watkins, and M. Bycroft NMR Structure of the {alpha}-Hemoglobin Stabilizing Protein: INSIGHTS INTO CONFORMATIONAL HETEROGENEITY AND BINDING J. Biol. Chem., August 13, 2004; 279(33): 34963 - 34970. [Abstract] [Full Text] [PDF] A. R. Cohen, R. Galanello, D. J. Pennell, M. J. Cunningham, and E. Vichinsky Thalassemia Hematology, January 1, 2004; 2004(1): 14 - 34. [Abstract] [Full Text] [PDF]

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