早产儿β地中海贫血筛查分析  

Screening and analysis of beta-thalassemia in premature infants

作　　者：杨金玲 陈大宇 谭建强 黄丽华 严提珍 韦江艳 蔡稔 兰海幽 YANG Jin-ling;CHEN Da-yu;TAN Jian-qiang;HUANG Li-hua;YAN Ti-zhen;WEI Jiang yah;CAI Ren;LAN Hai-you(Department of Medical Genetics ,Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou ,Guangxi 545001, China)

机构地区：[1]柳州市妇幼保健院医学遗传科柳州市出生缺陷预防与控制重点实验室,广西柳州545001

出　　处：《中国儿童保健杂志》2018年第5期468-471,共4页Chinese Journal of Child Health Care

基　　金：国家自然科学基金(81360091);卫生行业科研专项项目(201202017);广西医疗卫生课题资助项目(Z2015189)

摘　　要：目的探讨不同胎龄早产儿滤纸干血斑血红蛋白的类型及其含量,确定血红蛋白A(HbA)筛查早产儿β地中海贫血的切值,为早产儿筛查β地中海贫血提供依据。方法采用毛细管血红蛋白分析技术检测2015年1月-2016年12月在柳州市新生儿疾病筛查中心进行筛查的5 719例早产儿滤纸干血斑血红蛋白成分及相对百分含量。通过数据分析及部分早产儿β地中海贫血基因检测确立HbA筛查早产儿β地中海贫血的切值。结果早产儿滤纸干血斑主要血红蛋白成分有HbA、HbF、HbA2;早期早产儿303例(5.3%),中期早产儿653例(11.42%),晚期早产儿4 763例(82.23%);各组切值取HbA的第5百分位(P_5)值,分别是4.7%、5.57%、6.7%,各组间HbA切值差异有统计学意义(P<0.001);选取各组切值进行早产儿β地中海贫血筛查时与基因确诊比较,发现实验结果中高度一致(Kappa值为0.678,P<0.001);早产儿HbA切值筛查β地中海贫血的灵敏度、特异度分别为81.25%(26/32)和86.67%(26/30);漏诊率、误诊率分别为18.75%(6/32)、13.33%(4/30);阳性预测值86.67%(26/30),阴性预测值81.25%(26/32),诊断符合率83.87%(52/62)。结论毛细管血红蛋白分析检测滤纸干血斑HbA可以用于早产儿β地中海贫血筛查。Objective To investigate the type and content of hemoglobin in dried blood spots in premature infants with different gestational ages, so as to determine the cut-off value of HbA in screening β-thalassemia in premature infants, thereby providing evidence for screening β-thalassemia in premature infants. Methods The components and relative content （%） of hemoglobin in dried blood spots in 5 719 premature infants from Liuzhou Center of Neonatal Screening were detected from January 2015 to December 2016 using capillary hemoglobin analysis. The cut-off value of HbA in screening β-thalassemia in premature infants was determined by data analysis and gene detection in partial premature infants with β-thalassemia. Results Main components of hemoglobin in dried blood spots in premature infants included HbA, HbF and HbA2. There were 303 （5.3%） infants with early preterm birth, 653 （11.42%） infants with moderate preterm birth and 4 763 （82.23%） infants with late preterm birth, showing the cut-off value （P5 value of HbA） of 4.7%, 5.57% and 6.7% respectively, with significant differences among each groups （P〈0.001）. The cut-off value in each group was used to screen β-thalassemia in premature infants, which was highly consistent with the Results of genetic diagnosis （Kappa value =0.678,P〈0.001）. The sensitivity and specificity of the cut-off value of HbA in screening β-thalassemia in premature infants was 81.25% （26/32） and 86.67% （26/30）, respectively. The rates of missed diagnosis and misdiagnosis were 18.75% （6/32） and 13.33% （4/30）, respectively. Positive predictive value was 86.67% （26/30）, negative predictive value was 81.25% （26/32）, and diagnostic accordance rate was 83.87% （52/62）. Conclusion Capillary hemoglobin analysis detecting HbA in dried blood spots can be used to screen β-thalassemia in premature infants.

关 键 词：早产儿 Β地中海贫血 毛细管血红蛋白分析 滤纸干血斑 切值 

分 类 号：R179[医药卫生—妇幼卫生保健]