Xiong Qian, Hu Xi-Jiang, Dai Xiang, Zhou Bin, Cai Wen-Qian
Wuhan Children's Hospital（Wuhan Maternal and Child Healthcare Hospital）, Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430016, Hubei Province, China.
Wuhan Children's Hospital（Wuhan Maternal and Child Healthcare Hospital）, Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430016, Hubei Province, China.E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2019 Feb;27(1):170-174. doi: 10.7534/j.issn.1009-2137.2019.01.027.
To investigate the β-thalassemia genotypes in neonates in Wuhan area of China and their characteristics of molecular epidemiology.
A total of 2721 neonates in Wuhan who were positive in primary screening for β-thalassemia were included in this study. Genotypes of β-thalassemia gene were determined with PCR-flow cytometry and fluorescence hybridization assay.
There were 537 cases of β-thalassemia with over 15 kinds of genotypes, and 19 cases of α-composite β-thalassemia with 8 genotypes. Thalassemia minor appeared mostly in β-thalassemia, including 229 cases of IVS-2-654/N (42.64%), 121 cases of CD41-42/N (22.53%), 76 cases of CD17/N.(14.15%), 39 cases of CD26/N (7.26%) and 27 cases of CD27-28/N (5.03%) and the total ratio reached to 91.62%, however, 1 case of thalassemia intermediate was -29/IVS-2-654, and the genotype of 2 cases of thalassemia major was CD27-28/IVS-2-654 and CD41-42/IVS-2-654. The mutation frequency of IVS-2-654, CD41-42 and CD17 was higher in β-thalassemia, as follows: 42.93%, 22.36% and 14.13%, respectively.
β-Thalassemia minor is the majority of the neonants thalassemia in Wuhan area. The gene frequency of deletion type, such as IVS-2-654/N, CD41-42/N and CD17/N, is higher.
调查中国武汉地区新生儿β地中海贫血基因型及其分子流行病学特征。
本研究纳入武汉地区2721例β地中海贫血初筛阳性的新生儿。采用聚合酶链反应-流式细胞术和荧光杂交法检测β地中海贫血基因的基因型。
共检出537例β地中海贫血，基因型超过15种，19例α复合β地中海贫血，基因型8种。轻型地中海贫血在β地中海贫血中最为常见，包括229例IVS-2-654/N（42.64%）、121例CD41-42/N（22.53%）、76例CD17/N（14.15%）、39例CD26/N（7.26%）和27例CD27-28/N（5.03%），总比例达91.62%，中间型地中海贫血1例为-29/IVS-2-654，重型地中海贫血2例基因型为CD27-28/IVS-2-654和CD41-42/IVS-2-654。IVS-2-654、CD41-42和CD17在β地中海贫血中的突变频率较高，分别为42.93%、22.36%和14.13%。
轻型β地中海贫血是武汉地区新生儿地中海贫血的主要类型。缺失型基因频率较高，如IVS-2-654/N、CD41-42/N和CD17/N。
