新生儿血红蛋白对地中海贫血筛查准确性分析

Accuracy of neonatal hemoglobin in screening for thalassemia

目的探讨新生儿脐带血与出生1～3d外周血血红蛋白组分与表达量对地中海贫血的筛查准确性。方法收集2016年1月至2017年6月在该院出生,并进行珠蛋白基因筛查的新生儿220例,应用毛细管电泳分析脐带血或外周血血红蛋白组分。结果 220例新生儿中脐带血组146例,外周血组74例,两组血红蛋白电泳结果一致。以基因检测结果为确诊标准,α-地中海贫血77例,其中电泳检测出Hb Bart′s条带63例,未检出Hb Bart′s条带均为静止型α-地中海贫血。以Hb Bart′s条带作为电泳筛查α-地中海贫血的标准,其灵敏度为81.81%(63/77),对轻型α-地中海贫血灵敏度达100.00%(61/61),特异度为100.00%(108/108)。基因检出β-地中海贫血34例与健康新生儿108例,两者血红蛋白F(HbF)百分比采用ROC曲线分析。轻型β-地中海贫血的截断值为86.65%,其灵敏度为94.12%(32/34),特异度为84.26%(91/108)。结论新生儿通过Hb Bart′s条带筛查α-地中海贫血,通过HbF筛查β-地中海贫血都有较好的灵敏度和特异度。

Objective To investigate the difference of peripheral blood and neonatal cord blood on hemoglobin analysis,and the accuracy of neonatal hemoglobin composition and expression in the screening of thalassemia. Methods Clinical data of 220 neonates were born during Jan 2016 to Jun 2017 at the Sun Yet-Sen Memorial Hospital were retrospectively reviewed.Hemoglobin fractions and quantification were performed by automated capillary electrophoresis,while the goblin gene was carried out for all the samples as gold standard. Results There were 146 cases of neonatal cord blood and 74 cases of peripheral blood,the results of hemoglobin electrophoresis were consistent.Among the 220 neonates,77 neonates were diagnosed as α-thalassemia and 63 cases of α-thalassemia detected Hb Bart′s band,remaining 14 silent α-thalassemia carriers.Taking Hb Bart′s band as the standard of α-thalassemia screening,the sensitivity was 81.81% and the specificity was 100.00 %.Thirty four cases of β-thalassemia and 108 cases of healthy newborns had not been detected by Hb Bart′s.The CUT-OFF value of percentage of HbF was 86.65%,and the sensitivity was 94.12% and the specificity was 84.26%. Conclusion Hb Bart′s band for the screening of α-thalassemia and HbF for screening of β-thalassemia in neonates have better sensitivity and specificity.