Screening and analysis of beta-thalassemia in premature infants

doi:10.11852/zgetbjzz2018-26-05-02

Abstract

Abstract: 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.

Key words: premature infants, beta-thalassemia, capillary hemoglobin analysis, dry blood spots, cut-off values

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(P₅)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。

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

CLC Number:

R179

YANG Jin-ling, CHEN Da-yu, TAN Jian-qiang, HUANG Li-hua, YAN Ti-zhen,
WEI Jiang-yan, CAI Ren, LAN Hai-you. Screening and analysis of beta-thalassemia in premature infants[J]. journal1, 2018, 26(5): 468-471.

杨金玲, 陈大宇, 谭建强, 黄丽华, 严提珍, 韦江艳, 蔡稔, 兰海幽. 早产儿β地中海贫血筛查分析[J]. 中国儿童保健杂志, 2018, 26(5): 468-471.

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