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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/21192
Title: Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with β thalassemia
Authors: Vip Viprakasit
Voravarn S. Tanphaichitr
Worrawut Chinchang
Pakarat Sangkla
Mitchell J. Weiss
Douglas R. Higgs
Mahidol University
Keywords: Biochemistry, Genetics and Molecular Biology;Immunology and Microbiology;Medicine
Issue Date: 1-May-2004
Citation: Blood. Vol.103, No.9 (2004), 3296-3299
Abstract: Although β thalassemia is considered to be a classic monogenic disease, it is clear that there is considerable clinical variability between patients who inherit identical β 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 stsbilize free α globin chains in vitro, could influence disease severity in patients with β thalassemia. To address this hypothesis, we studied 120 patients with Hb E-β 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-β 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 β thalassemia. © 2004 by The American Society of Hematology.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=1942425504&origin=inward
http://repository.li.mahidol.ac.th/dspace/handle/123456789/21192
ISSN: 00064971
Appears in Collections:Scopus 2001-2005

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