摘要
目的通过对新生儿血红蛋白筛查结果与地中海贫血基因检测结果进行回顾性分析,观察新生儿HbBart’s值与地中海贫血分型的关联性,探讨毛细管血红蛋白电泳在新生儿地中海贫血筛查防治中的应用效果,为高州地区地中海贫血防控体系的构建提供重要参考依据。方法选取2022年6月至2023年5月在该院出生,并进行地中海贫血筛查的6172名新生儿为研究对象,通过对新生儿脐带血进行血红蛋白电泳分析,电话通知电泳筛查结果异常的患儿家属带患儿复诊,建议进行地贫基因检测。结果658例新生儿的血红蛋白电泳分析初筛结果异常,检出HbBart’s区带,疑似地贫患儿,占比10.66%。243例患儿家属知情同意选择进行地贫基因检测。确诊α型地中海贫血新生儿202例,占比83.12%;确诊β型地中海贫血新生儿3例,占比1.23%;确诊α型合并β型地中海贫血新生儿13例,占比5.35%;地贫筛查阳性预测值89.71%。本次结果分析显示,静止型α地中海贫血HbBart’s值主要集中在1.0%~5.0%,标准型α地中海贫血HbBart’s值则集中在5.0%-15.0%,中间型α地中海贫血HbBart’s值多见于15.0%~25.0%。此外,β型地中海贫血和α型合并β型地中海贫血HbBart’s值多集中集中在1.0%~5.0%。结论新生儿HbBart’s值与地中海贫血分型也存在一定相关性,对新生儿地中海贫血的检出和分型具有的应用价值。体现毛细管血红蛋白电泳法快速、高效、准确、灵敏等优势,在新生儿地中海贫血筛查中有较显著的作用,通过筛查有助于及早发现,结合基因分型后实施早期干预,以促进新生儿成长和生存质量。
Objective Through a retrospective analysis of the screening results of neonatal hemoglobin and the detection results of thalassemia genes,mainly to observe the association between the HbBart’s values of neonates and the classification of thalassemia,and to explore the application effect of capillary hemoglobin electrophoresis in the screening and prevention of neonatal thalassemia.To explore the application effect of capillary hemoglobin electrophoresis in the screening,prevention and treatment of thalassemia in neonates,and to provide an important reference basis for the construction of the thalassemia prevention and control system in Gaozhou area.Methods A total of 6172 newborns who were born in this hospital from June 2022 to May 2023 and underwent thalassemia screening were selected as the research subjects.Through hemoglobin electrophoresis analysis of the umbilical cord blood of the newborns,the family members of the children with abnormal electrophoresis screening results were notified by phone to bring the children for re-examination,and a comprehensive judgment was made in combination with blood routine and clinical manifestations.It is recommended to conduct thalassemia gene testing.Results The initial screening results of hemoglobin electrophoresis analysis in 658 newborns were abnormal.The HbBart’s zone was detected,indicating suspected thalassemia children,accounting for 10.66%.Among the family members of 243 children patients,informed consent was given to choose to undergo thalassemia gene testing.A total of 202 newborns with alpha thalassemia were diagnosed,accounting for 83.12%.Three neonates withβ-thalassemia were diagnosed,accounting for 1.23%.Thirteen neonates with typeαcombined with typeβthalassemia were diagnosed,accounting for 5.35%,and the positive predictive value of thalassemia screening was 89.71%.The analysis of the results this time shows that the HbBart’s values of stationary alpha-thalassemia are mainly concentrated in the range of 1.0%-5.0%,those of standard alpha-thalassemia are concentrated in the range of 5.0%-15.0%,and those of intermediate alpha-thalassemia are more common in the range of 15.0%-25.0%.In addition,the HbBart’s values for beta-thalassemia and alpha-thalassemia combined with beta-thalassemia are mostly concentrated at 1.0%-5.0%.Conclusion There is also a certain correlation between the HbBart’s value of neonates and the classification of thalassemia,which has application value for the detection and classification of thalassemia in neonates.It reflects the advantages of capillary hemoglobin electrophoresis,such as rapidity,efficiency,accuracy and sensitivity,and plays a significant role in the screening of neonatal thalassemia.Through screening,it is helpful for early detection.Combined with genotyping,early intervention can be implemented to promote the growth and quality of life of newborns.
作者
黄小卫
HUANG Xiaowei(Department of Laboratory Medicine,Gaozhou Maternal and Child Health Hospital,Gaozhou 525200,China)
出处
《标记免疫分析与临床》
2025年第8期1681-1685,共5页
Labeled Immunoassays and Clinical Medicine
作者简介
黄小卫,本科,主管技师,主要从事临床检验相关工作。E-mail:bolibei_66@qq.com。
