摘要目的:了解武汉及周边地区新生儿异常血红蛋白病的发病情况及发病特征。方法:对送往湖北省新生儿疾病筛查中心的新生儿（出生时间为2020年1月至2021年6月）干血斑样本进行血红蛋白毛细管电泳检测，对出现异常血红蛋白条带的新生儿做进一步的基因检测，并进行统计分析。结果:共采集新生儿干血斑样本51 348例，电泳分析有127例出现异常条带，78例被召回进行基因检测，召回率为61.42%。其中42例被确诊为异常血红蛋白病，按召回比例计算，异常血红蛋白病检出率为0.13%。其中α珠蛋白链结构变异11例，变异例数出现较多的是Hb Queens（3例，27.27%）和Hb I（2例，18.18%）；β珠蛋白链结构变异31例，变异例数出现较多的是Hb J-Bangkok（11例，35.48%），Hb E（8例，25.81%）和Hb New York（7例，22.58%）。共发现13种异常血红蛋白，其中Hb I位于N13/N（Bart）区，Hb J-Bangkok及Hb J-Meerut位于N12区，Hb New York及Hb Shenyang位于N11区，Hb G-Coushatta、Hb G-Taipei及Hb Port Phillip位于N5/N（D/G/K）区，Hb Queens、Hb G-Honolulu及Hb Ottawa位于N4/N（S）区，Hb Montgomery及Hb E位于N3/N（E）区。结论:武汉及周边地区新生儿异常血红蛋白病发病较低，且以β珠蛋白链结构变异为主。

abstractsObjective:To analyze the incidence and characteristics of neonatal abnormal hemoglobinopathy in Wuhan and its surrounding areas.Methods:Dry blood spot samples of newborns (born from January 2020 to June 2021) sent to Hubei Neonatal Disease Screening Center were tested by hemoglobin capillary electrophoresis, and the newborns with abnormal hemoglobin bands were further tested for gene and statistically analyzed.Results:A total of 51 348 samples of neonatal dry blood spots were collected. According to electrophoresis analysis, abnormal bands were detected in 127 cases, and 78 cases were recalled for genetic test, the recall rate was 61.42%. Among them, 42 cases were diagnosed as abnormal hemoglobinopathy. Calculated according to the recall ratio, the detection rate of abnormal hemoglobinopathy was 0.13%. There were 11 cases of α-globin chain structural variation, most often were 3 cases of Hb Queens (27.27%) and 2 cases of Hb I (18.18%); moreover, there were 31 cases of β-globin chain structural variation, among which 11 cases of Hb J-Bangkok (35.48%), 8 cases of Hb E (25.81%) and 7 cases of Hb New York (22.58%) appeared more frequently. Among the 13 kinds of abnormal hemoglobins found, Hb I was located in N13/N(Bart) zone; Hb J-Bangkok and Hb J-Meerut were located in N12 zone; Hb New York and Hb Shenyang were located in N11 zone; Hb G-Coushatta, Hb G-Taipei and Hb Port Phillip were located in N5/N(D/G/K) zone; Hb Queens, Hb G-Honolulu and Hb Ottawa were located in N4/N(S) zone; Hb Montgomery and Hb E were located in N3/N (E) zone.Conclusion:The incidence of neonatal abnormal hemoglobinopathy in Wuhan and its surrounding areas is low, and main type of abnormal hemoglobin is β-globin chain structural variation.