4411例新生儿血红蛋白毛细管电泳地中海贫血筛查的探讨

目的探讨新生儿血红蛋白毛细管电泳地中海贫血筛查的应用价值。方法对采用毛细管血红蛋白电泳筛查新生儿地中海贫血资料进行回顾性总结。结果4411例新生儿血红蛋白毛细管电泳筛查，检出异常血红蛋白523例，阳性率11．89％，其中，检出d地中海贫血473例（其中HbBart’s胎儿水肿综合症1例，出生时已死亡：HbBart’s含量〈70％为467例；HbCS5例），阳性率10．72％。β-地中海贫血15例（HbE杂合子15例），阳性率0．34％。检出异常血红蛋白病（即HbD和HbJ杂合子）35例，阳性率0．79％。结论新生儿脐血红蛋白毛细管电泳地中海贫血筛查主要以d为地中海贫血主，β-地中海贫血很难筛查，除非出现HbE带，筛查阳性者建议做地贫基因检测或DNA序列测序分析。

4411 cases of neonatal hemoglobin thalassemia screening of capillary electrophoresis.

Objective： To investigate hemoglobin by capillary zone electrophoresis in thalassemia screening application value. Methods ： Using capillary electrophoresis of hemoglobin screening of thalassemia in newborns were retrospectively summarized. Results ： 441l cases of newborn screening for hemoglobin by capillary zone electrophoresis, thalassemia screening was positive in 523 cases, the positive rate of 11.89%, Wherein, sift out the alpha thalassemia in 473 Cases, the positive rate of 10. 72%. β- thalassemia in 15 cases, the positive rate was 0. 34% , the abnormal HbD and HbJ heterozygotes in 35 cases, the positive rate of 0. 79%. Conclusion： the neonatal umbilical hemoglobin by capillary zone electrophoresis thalassemia screening for thalassemia major with α, β - thalasse- mia screening is difficult, unless HbE belt, screening of thalassemia gene detection of advice or DNA sequencing analysis.