武汉地区新生儿β地中海贫血筛查及其影响因素分析

β-Thalassemia among Newborns in Wuhan Region and Its Influence Factors

目的:了解武汉地区新生儿β-地中海贫血筛查情况,探讨滤纸干血斑全血HbA电泳的影响因素。方法:对99275例新生儿滤纸干血斑进行毛细管电泳,分析Hb A、Hb A2和Hb F等含量,按各组份的比例判读β-地中海贫血筛查结果,对疑似β-地中海贫血新生儿,将其召回进行地中海贫血基因检测。结果:在99275例新生儿中,筛出1408例阳性患儿,筛查阳性率1.41%;对其中709例患儿进行地中海贫血基因检测,检出350例基因突变患儿。经统计分析,Hb A不同含量各组阳性预测值有统计学差异,不同孕周阳性预测值有统计学差异;杂合β-地中海贫血患者中,不同基因缺陷型的Hb A含量无统计学差异;杂合β-地中海贫血患者中不同表型的Hb A含量无统计学差异;日龄和孕周与Hb A含量成正相关。结论:将毛细管电泳技术用于筛查β-地中海贫血时,对足月儿筛查效率较高;日龄和孕周与新生儿Hb A含量有关。

Objective;To investigate the screening ofβ-thalassemia among newborns in Wuhan region,so as to explore the influencing factors of Hb A in dried blood spot.Methods;Concentrations of Hb A,Hb A2,Hb F in the dried blood spots collected from 99275 neonates in Wuhan region were analyzed by Sebia capillary electrophoresis.The screening result ofβ-thalassemia was interpretated accroding to the ratio of each group,the suspiciousβ-thalassemia newborns were recalled and the gene of thalassemia in those newborns was checked.Results:Among 99275 newborns,1408 positive patients were found,and the positive rate of screening was 1.41%.A total of 350 patients with gene mutation were found among 709β-thalassemia suspicious patients.There were significantly statistical differences of positive predictive value among Hb A levels in different groups and there were also significantly statistical differences of positive predictive values among gestational weeks in different groups.No significantly statistical differences were observed among different genetic defects and phenotypes of heterozygousβ-thalassemia in Hb A concentrations.Postnatal day and gestational age were significantly and positively associated with Hb A concentrations.Conclusion;The capillary electrophoresis is an effective screening method forβ-thalassemia of full-term neonate.Postnatal day and gestational age is associated with the pencentage of Hb A.