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Coinheritance of the different copy numbers of alpha-globin gene modifies severity of beta-thalassemia/Hb E disease

Orapan Sripichai1, Thongperm Munkongdee, Chutima Kumkhaek

  • 1Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Phutthamonthon, Nakhonpathom, 73170, Thailand.

Annals of Hematology
|November 21, 2007
PubMed

beta-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 beta 0-thalassemia/Hb E patients. Coinheritance of alpha-thalassemia with beta 0-thalassemia/Hb E produces a milder clinical phenotype in contrast to an interaction of alpha-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 alpha- to non-alpha-globin chains imbalance is indeed the cause of the severe/mild thalassemia phenotype.

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