Publication: Coinheritance of the different copy numbers of α-globin gene modifies severity of β-thalassemia/Hb E disease
Issued Date
2008-05-01
Resource Type
ISSN
09395555
Other identifier(s)
2-s2.0-41549140910
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Mahidol University
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SCOPUS
Bibliographic Citation
Annals of Hematology. Vol.87, No.5 (2008), 375-379
Suggested Citation
Orapan Sripichai, Thongperm Munkongdee, Chutima Kumkhaek, Saovaros Svasti, Pranee Winichagoon, Suthat Fucharoen Coinheritance of the different copy numbers of α-globin gene modifies severity of β-thalassemia/Hb E disease. Annals of Hematology. Vol.87, No.5 (2008), 375-379. doi:10.1007/s00277-007-0407-2 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/19680
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Title
Coinheritance of the different copy numbers of α-globin gene modifies severity of β-thalassemia/Hb E disease
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.