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目的研究全自动毛细管电泳技术用于河源地区新生儿地中海贫血筛查中的价值。方法 17454例河源地区新生儿为研究对象,对全部新生儿使用Sebia全自动毛细管电泳仪进行滤纸干血斑标本的血红蛋白(Hb)电泳,对于检测显示为阳性的标本召回继续进行常见的α、β地中海贫血基因的检测分析。结果 17454例新生儿中检测出2712例血红蛋白阳性,阳性率为15.54%;其中1879例(10.77%)α型地中海贫血,750例(4.30%)β型地中海贫血,异常血红蛋白83例(0.48%);本院召回221例α地中海贫血样本和80例β地中海贫血样本进行基因分析,其中α地中海贫血的诊断符合率为90.05%,β地中海贫血诊断符合率为83.75%。结论全自动毛细管电泳筛查在新生儿地中海贫血的筛查中具有较高的价值,诊断符合率高,有助于临床医师早期发现地中海贫血,并通过基因分析分型,早期干预治疗,确保新生儿的健康成长发育。
Objective To study the value of automatic capillary electrophoresis in the screening of neonatal thalassemia in Heyuan area. Methods A total of 17 454 newborn infants from Heyuan were enrolled in this study. Hepatic hemoglobin (Hb) electrophoresis was performed on all newborns using a Sebia automated capillary electrophoresis system. The samples were tested for positive Hb electrophoresis and the common alpha, beta Detection and Analysis of Thalassemia Genes. Results A total of 2712 hemoglobin positive cases were detected in 17 454 newborns with a positive rate of 15.54%. Among them, 1879 (10.77%) had α thalassemia, 750 (4.30%) had β thalassemia and 83 had abnormal hemoglobin (0.48% ; The hospital recalled 221 cases of α-thalassemia samples and 80 cases of β-thalassemia samples for gene analysis, including α-thalassemia diagnostic coincidence rate was 90.05%, β-thalassemia diagnostic coincidence rate was 83.75%. Conclusion Automatic capillary electrophoresis screening has high value in the screening of newborns with thalassemia. The diagnostic coincidence rate is high, which helps clinicians to find thalassemia early, and through gene analysis and typing, early intervention treatment to ensure newborn Children’s healthy growth and development.