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目的:探讨基于干血斑的毛细管电泳技术在新生儿α-地中海贫血筛查中的应用价值。方法:新生儿出生48~72 h从足跟内或外侧采血4滴制成干血斑,利用毛细管电泳技术对干血斑中Hb Bart’s进行定量分析,对阳性标本(含Hb Bart’s)进行地中海贫血基因诊断;同时,抽取筛查阴性100例进行α-地中海贫血基因诊断。结果:共筛查新生儿干血斑标本58 150例,筛查出α-地中海贫血阳性2 635例,阳性率4.53%;对召回复查的271例初筛阳性病例进行地贫基因诊断,其中αCSα/αα26例、αQSα/αα5例、--SEA/αα184例、(--SEA/αα)/(-28/N)1例、(--SEA/αα)/(17/N)1例、(--SEA/αα)/(41-42/N)4例、--SEA/αWSα3例、(--SEA/αα)/(654/N)1例、-α3.7/-α3.7 1例、-α3.7/αα4例、-α3.7/αCSα1例、-α3.7/αWSα1例、--SEA/-α3.7 9例、-α3.7/-α4.2 2例、-α4.2/αα2例、αα/αα26例,阳性共245例,阳性率90.41%。100例筛查阴性者中,发现地贫基因携带者2例,其中-α3.7/αα1例、-α4.2/αα1例,均为静止型,假阴性率为2.00%。结论:利用毛细管电泳技术对新生儿干血斑中Hb Bart’s进行定量分析,对新生儿α-地中海贫血筛查准确性高。利用干血斑替代脐血进行新生儿α-地中海贫血筛查,标本运输和保存更方便,更利于此项目的广泛开展和新生儿疾病筛查的管理,值得广泛推广应用。
Objective: To investigate the value of dry blood spots-based capillary electrophoresis in the screening of neonatal α-thalassemia. Methods: Four weeks after birth, 4 drops of blood were taken from the inside or outside of the heel to make dry blood spots. Quantitative analysis of Hb Bart’s in dried blood spots was performed by capillary electrophoresis. The positive samples (including Hb Bart’s) Gene diagnosis; the same time, negative screening screening 100 cases of alpha-thalassemia gene diagnosis. Results: A total of 58 150 newborn blood spot samples were screened, and 2 635 positive cases of α-thalassemia were screened out, with a positive rate of 4.53%. A total of 271 primary screening positive cases were retrospectively analyzed for thalassemia gene, including αCSα / αα26 cases, αQSα / αα5 cases, - SEA / αα184 cases, 1 case of (- SEA / αα) / -28 / N and 1 cases of (- SEA / αα) / (17 / N) - SEA / αα) / (41-42 / N), 3 cases of SEA / αWSα, 1 case of (- SEA / αα) / (654 / N), α3.7 / -α3.71 Cases of α3.7 / αα4 cases, α3.7 / αCSα1 cases, α3.7 / αWSα1 cases, - SEA / -α3.79 cases, -α3.7 / -α4.2 2 cases, α4.2 / αα2 cases, αα / αα26 cases, a total of 245 cases were positive, the positive rate of 90.41%. Among the 100 cases of negative screening, two cases of thalassemia gene carriers were found, among them, 1 cases of -α3.7 / αα and 1 cases of -α4.2 / αα were all resting type with a false-negative rate of 2.00%. Conclusions: The quantitative analysis of Hb Bart’s in dried blood spot of neonates by capillary electrophoresis is of high accuracy in screening neonatal α-thalassemia. The use of dry blood spots instead of umbilical cord blood screening for neonatal α-thalassemia, specimen transport and preservation more convenient, more conducive to the project’s extensive management and screening of neonatal disease management, it is widely used.