目的：探讨干血片毛细管电泳技术在新生儿α-珠蛋白生成障碍性贫血（以下简称α-地贫）筛查中的应用价值。方法使用干血片毛细管电泳仪对46718例新生儿足跟血滤纸干血片标本进行血红蛋白（Hb）电泳分析，检测 HbA 、HbF 、HbA2和异常 Hb 的水平，对筛查表型阳性的病例召回进行基因分析。结果46718例新生儿足跟血滤纸干血片标本中检测出巴特血红蛋白（Hb Bart′s）阳性者2598例，筛查阳性率5．56％（2598／46718）；召回544例经基因分析确诊477例α-地贫基因携带者，故Hb Bart′s 带筛查与基因确诊的符合率为87．68％（477／544）。进一步分析其临床表型与 Hb Bart′s 水平的关系可见，随着临床表型的加重，Hb Bart′s 水平逐渐增加，且差异有统计学意义（P＝0．000）。结论滤纸干血片毛细管电泳分析技术与基因分析有较好的一致性，可根据 Hb Bart′s 水平的多少初步判断α-地贫的临床分型。%Objective To investigate the application of capillary electrophoresis by dried filter blood paper for screening of α-thalassemia in neonates .Methods The hemoglobin (Hb) of 46 718 cases of neonatal dried heel blood spots were analyzed by the capillary electrophoresis and the content of HbA ,HbF ,HbA2 and abnormal Hb were detected ,the phenotype cases which was screened positive were recalled for genetic analysis .Results A total of 2 598 cases of Bart hemoglobin (Hb Bart′s) positive were detected in 46 718 cases of neonatal heel blood dried blood spots .The screening positive rate was 5 .56% (2 598/46 718) .A total of 477 cases of α-thalassemia gene carriers were confirmed by genetic analysis in the 544 cases which were recalled .The coincidence rate of Hb Bart′s screening and genetic diagnosis was 87 .68% (477/544) .By analyzing the relationship between the clinical pheno-types and the content of Hb Bart′s ,we found the Hb Bart′s content gradually increased with the severity of clinical phenotype ,and the difference was statistically significant (P= 0 .000) .Conclusion There is a good consistency between the capillary electrophore-sis of dried filter blood paper and the genetic analysis .It could be determined α-thalassemia clinical type according to the Hb Bart′s content .
展开▼
