Lin Min, Han Zhi-Jun, Wang Qian, Zheng Lei, Wang Yan, Yang Hui, Huang Yue, Lin Fen, Zhan Xiao-Fen, Lin Chun-Ping, Wu Jiao-Ren, Luo Zhao-Yun, Liu Jing-Bo, Yan Zhi-He, Zheng Shu-Yan, Zheng Jia-Kun, Lu Min, Zhu Juan-Juan, Xie Long-Xu, Yang Li-Ye
Laboratory Medical Center, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
Hemoglobin. 2013;37(5):454-66. doi: 10.3109/03630269.2013.807285. Epub 2013 Jun 27.
In order to determine the prevalence and molecular characterization of hemoglobinopathies in the Wuxi region of Jiangsu Province in the People's Republic of China (PRC), a total of 10,297 healthy people selected from a regional hospital were screened. Hemoglobin (Hb) electrophoresis, complete blood cell (CBC) count, polymerase chain reaction (PCR), DNA sequencing, reverse dot-blot and multiplex ligation-dependent probe amplification (MLPA) were used to detect Hb variants, thalassemias and hereditary persistence of fetal Hb (HPFH). Two thousand and twenty-one adult subjects were screened for thalassemia, five cases were identified as α-thalassemia (α-thal) carriers including three cases of the -α(3.7) (rightward) deletion, one case of the - -(SEA) deletion and one case of β-thal [IVS-II-654 (C>T), (HBB: c.316-197C>T)]. The incidence of Hb variants, thalassemia and HPFH/δβ-thal were 0.136% (14/10,297), 0.25% (5/2021) and 0.0001% (1/10,297), respectively. Eight genotypes of Hb variants were found, including Hb E [β26(B8)Glu→Lys, GAG>AAG; HBB: c.79G>A], Hb J-Bangkok [β56(D7)Gly→Asp (GGC>GAC); HBB; c.170G>A], Hb G-Coushatta [β22(4)Glu→Ala (GAA>GCA); HBB: c.68A>C], Hb Queens [α34(B15)Leu→Arg (CTG>CGG) (α2 or α1); HBA2: c.104T>G (or HBA1)], Hb I [α16(A14)Lys→Glu, AAG>GAG (α1); HBA1: c.49A>G], Hb Beijing [α16(A14)Lys→Asn (AAG>AAC or AAT) (α2 or α1); HBA2: c.51G>C (or HBA1) or 51G>T (or HBA1)], Hb Ube-2 [α68(E17)Asn→Asp (AAC>GAC) (α2 or α1); HBA2: c.205A>G (or HBA1)] and Hb G-Taipei [β22(B4)Glu→Gly (GAA>GGA); HBB: c.68A>G]. A Sicilian δβ(0)-thal, identified for the first time in Asia, was also found in this survey.
为确定中华人民共和国江苏省无锡市地区血红蛋白病的患病率及分子特征，我们对一家地区医院选取的10297名健康人进行了筛查。采用血红蛋白（Hb）电泳、全血细胞计数（CBC）、聚合酶链反应（PCR）、DNA测序、反向点杂交及多重连接依赖探针扩增（MLPA）技术检测Hb变异体、地中海贫血及胎儿血红蛋白遗传性持续存在（HPFH）。对2021名成年受试者进行地中海贫血筛查，确诊5例α地中海贫血（α地贫）携带者，其中3例为 -α(3.7)（右向）缺失，1例为 --(SEA) 缺失，1例为β地贫 [IVS-II-654 (C>T)，(HBB: c.316-197C>T)]。Hb变异体、地中海贫血及HPFH/δβ地贫的发生率分别为0.136%（14/10297）、0.25%（5/2021）和0.0001%（1/10297）。共发现8种Hb变异体基因型，包括Hb E [β26(B8)Glu→Lys，GAG>AAG；HBB: c.79G>A]、Hb J-曼谷 [β56(D7)Gly→Asp (GGC>GAC)；HBB；c.170G>A]、Hb G-库沙塔 [β22(4)Glu→Ala (GAA>GCA)；HBB: c.68A>C]、Hb皇后区 [α34(B15)Leu→Arg (CTG>CGG) (α2或α1)；HBA2: c.104T>G (或HBA1)]、Hb I [α16(A14)Lys→Glu，AAG>GAG (α1)；HBA1: c.49A>G]、Hb北京 [α16(A14)Lys→Asn (AAG>AAC或AAT) (α2或α1)；HBA2: c.51G>C (或HBA1)或51G>T (或HBA1)]、Hb宇部-2 [α68(E17)Asn→Asp (AAC>GAC) (α2或α1)；HBA2: c.205A>G (或HBA1)] 和Hb G-台北 [β22(B4)Glu→Gly (GAA>GGA)；HBB: c.68A>G]。本次调查还首次在亚洲发现了1例西西里δβ(0)地贫。
