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目的:了解江苏省无锡地区异常血红蛋白病的流行病学调查。方法:10297人参加异常血红蛋白的电泳筛查,全自动血球分析仪检测各项红细胞参数,Gap-PCR与反向斑点杂交检测地贫及HbE,采用PCR-测序法检测异常血红蛋白点突变。结果:无锡地区的异常血红蛋白发生率为0.136%(14/10297)。本次筛查共发现8种异常血红蛋白,包括1例HbI、1例HbJ-Bangkok、1例HbUbe-2、1例HbJ-Beijing,1例HbHbG-Taipei,3例HbQueens,2例HbG-Coushatta和4例HbE。结论:江苏省无锡地区的异常血红蛋白病发生率低于全国平均水平,具有鲜明的南北交汇的基因特征。
Objective: To understand the epidemiological investigation of abnormal hemoglobin disease in Wuxi, Jiangsu Province. Methods: 10297 people participated in the screening of abnormal hemoglobin by electrophoresis. The parameters of erythrocytes were detected by the automatic hematology analyzer. The levels of HbE and Gap-PCR were detected by Gap-PCR and reverse blot hybridization. The point mutation of abnormal hemoglobin was detected by PCR-sequencing. Results: The incidence of abnormal hemoglobin in Wuxi was 0.136% (14/10297). A total of 8 abnormal hemoglobins were detected in this screening, including 1 HbI, 1 HbJ-Bangkok, 1 HbUbe-2, 1 HbJ-Beijing, 1 HbHbG-Taipei, 3 HbQueens, 2 HbG- Coushatta and 4 cases of HbE. Conclusion: The incidence of abnormal hemoglobin disease in Wuxi, Jiangsu Province is lower than the national average, with distinct genetic characteristics of north-south confluence.