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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/19680
Title: Coinheritance of the different copy numbers of α-globin gene modifies severity of β-thalassemia/Hb E disease
Authors: Orapan Sripichai
Thongperm Munkongdee
Chutima Kumkhaek
Saovaros Svasti
Pranee Winichagoon
Suthat Fucharoen
The Institute of Science and Technology for Research and Development, Mahidol University
Mahidol University
Keywords: Medicine
Issue Date: 1-May-2008
Citation: Annals of Hematology. Vol.87, No.5 (2008), 375-379
Abstract: β-Thalassemia/Hb E patients show a range of clinical severities, from nearly asymptomatic to transfusion-dependent thalassemia major. This study investigated the clinical heterogeneity and hematologic parameters obtained in the large cohort of 925 Thai β0-thalassemia/Hb E patients. Coinheritance of α-thalassemia with β0-thalassemia/Hb E produces a milder clinical phenotype in contrast to an interaction of α-globin gene triplication in severe thalassemia. The mean steady-state Hb was also higher, whereas the mean corpuscular volume and the percentage of Hb F were markedly lower in the former group. This finding demonstrates that the genetic combination leading to the more/less degree of α- to non-α-globin chains imbalance is indeed the cause of the severe/ mild thalassemia phenotype. © Springer-Verlag 2007.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=41549140910&origin=inward
http://repository.li.mahidol.ac.th/dspace/handle/123456789/19680
ISSN: 09395555
Appears in Collections:Scopus 2006-2010

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