Sripichai Orapan, Munkongdee Thongperm, Kumkhaek Chutima, Svasti Saovaros, Winichagoon Pranee, Fucharoen Suthat
Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Phutthamonthon, Nakhonpathom, 73170, Thailand.
Ann Hematol. 2008 May;87(5):375-9. doi: 10.1007/s00277-007-0407-2. Epub 2007 Nov 20.
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.
β地中海贫血/Hb E患者表现出一系列临床严重程度，从几乎无症状到依赖输血的重型地中海贫血。本研究调查了925例泰国β0地中海贫血/Hb E患者的大型队列中的临床异质性和血液学参数。与严重地中海贫血中α-珠蛋白基因三倍体的相互作用相反，α地中海贫血与β0地中海贫血/Hb E的共同遗传产生较轻的临床表型。前一组的平均稳态血红蛋白也较高，而平均红细胞体积和Hb F百分比则明显较低。这一发现表明，导致α-与非α-珠蛋白链失衡程度或多或少的基因组合确实是重型/轻型地中海贫血表型的原因。
