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目的了解横县α-地中海贫血基因携带率的情况。方法采用全自动血红蛋白电泳仪对新生儿脐带血进行Hb电泳,染色后用扫描仪进行Hb Bart’s定性、定量分析。结果在4063份脐血中,检出Hb Bart’s(≥现1.0%)757例,检出率为18.63%,其中Hb Bart’s值为1.0%～5.0%者为349例,在5.1%～15%者为369例,15.1%～40%者为33例。80%～90%者即Hb Bart’s水肿综合征6例。检出α-地中海贫血静止型、标准型、HbH基因携带及Hb Bart’s水肿综合征检出率分别为8.59%、9.08%、0.81%、0.15%。结论横县α-地中海贫血基因携带率高;脐血血红蛋白电泳对新生儿α-地中海贫血早期筛查和诊断是一种简便、快捷、及时、准确、有效的方法。可以指导合理婚配、达到杜绝重型地贫儿出生,对优生优育,提高人口素质具有重要意义。
Objective To understand the prevalence of α-thalassemia gene in Hengxian County. Methods Hb electrophoresis was performed on neonatal umbilical cord blood using a hemoglobin electrophoresis system. After being stained, Hb Bart’s qualitative and quantitative analysis was performed with a scanner. Results In 4063 cord blood samples, 757 cases of Hb Bart’s (≥ 1.0%) were detected, the detection rate was 18.63%. Among them, 349 cases were Hb Bart’s value 1.0% -5.0%, 5.1% -15% 369 cases, 15.1% ~ 40% were 33 cases. 80% to 90% of Hb Bart’s edema syndrome in 6 cases. The detection rates of resting α-thalassemia, normal type, HbH gene carriers and Hb Bart’s edema syndrome were 8.59%, 9.08%, 0.81% and 0.15% respectively. CONCLUSION: The carrier of α-thalassemia gene in Hengxian County is high. Umbilical cord hemoglobin electrophoresis is a simple, rapid, accurate, and effective method for the early screening and diagnosis of α-thalassemia in neonates. It can guide reasonable marriage to reach the goal of putting an end to the birth of heavy poverty-stricken children and giving birth to prenatal and postnatal care and raising the quality of the population.