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用于新生儿血红蛋白病筛查的全血与干血的比较:实验室及项目相关问题

Comparison of liquid and dried blood for neonatal hemoglobinopathy screening: laboratory and programmatic issues.

作者信息

Papadea C, Eckman J R, Kuehnert R S, Platt A F

机构信息

Public Health Laboratory, Georgia Department of Human Resources, Atlanta.

出版信息

Pediatrics. 1994 Mar;93(3):427-32.

PMID:8115202
Abstract

OBJECTIVES

To compare laboratory and programmatic issues in neonatal hemoglobin screening in two systems using either liquid cord blood or heel puncture blood dried on filter paper (DB) to determine the accuracy of hemoglobin phenotype; the collection rate of cord blood versus DB; and the types of and reasons for errors.

METHODS

Cord blood samples for 6904 newborns were analyzed by electrophoresis in a large hospital laboratory. DB samples on the same cohort were analyzed by isoelectric focusing in a state public health laboratory.

RESULTS

Interlaboratory concordance was 99.4% for 6904 matched specimen pairs, which included 27 disease and 596 carrier phenotypes. In 42 pairs, discordances for potential disease phenotypes occurred with cord blood samples. Errors involving carrier phenotypes occurred in 15 cord blood samples and 14 DB samples. Inconclusive results requiring repeat testing occurred more often in the cord blood testing system (92) than in the DB system (23). Clerical transcriptions and limitations of the techniques accounted for most laboratory errors. Noncompliance in sample collection occurred more frequently with cord blood (181) than DB (86).

CONCLUSIONS

Both systems are subject to errors, but are equally reliable for neonatal hemoglobinopathy screening.

摘要

目的

比较两个系统在新生儿血红蛋白筛查中的实验室及程序相关问题,这两个系统分别使用液体脐带血或滤纸(DB)上的足跟穿刺干血来确定血红蛋白表型的准确性;脐带血与DB的采集率;以及错误的类型和原因。

方法

在一家大型医院实验室中,通过电泳对6904例新生儿的脐带血样本进行分析。在州公共卫生实验室中,通过等电聚焦对同一队列的DB样本进行分析。

结果

6904对匹配样本的实验室间一致性为99.4%,其中包括27种疾病和596种携带者表型。在42对样本中,脐带血样本出现了潜在疾病表型的不一致情况。15份脐带血样本和14份DB样本出现了涉及携带者表型的错误。需要重复检测的不确定结果在脐带血检测系统(92例)中比在DB系统(23例)中更常见。大多数实验室错误是由文书转录和技术局限性导致的。脐带血样本采集的不依从情况(181例)比DB样本(86例)更频繁。

结论

两个系统都存在错误,但在新生儿血红蛋白病筛查中同样可靠。

相似文献

1
Comparison of liquid and dried blood for neonatal hemoglobinopathy screening: laboratory and programmatic issues.用于新生儿血红蛋白病筛查的全血与干血的比较:实验室及项目相关问题
Pediatrics. 1994 Mar;93(3):427-32.
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Isoelectric focusing of human hemoglobins.人血红蛋白的等电聚焦
Prog Clin Biol Res. 1981;60:177-95.
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Structural characterization of abnormal hemoglobins from dried blood specimens in a neonatal screening program.新生儿筛查项目中干血标本异常血红蛋白的结构特征分析
Ann Biol Clin (Paris). 1993;51(10-11):867-70.
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[Diagnosis of hemoglobinopathies in the clinical laboratory].[临床实验室中血红蛋白病的诊断]
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Newborn screening for sickle cell and other hemoglobinopathies: a Canadian pilot study.新生儿镰状细胞病及其他血红蛋白病筛查:一项加拿大试点研究。
Clin Invest Med. 1992 Aug;15(4):376-83.
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Screening for haemoglobinopathies on cord blood: laboratory and clinical experience.脐血血红蛋白病筛查:实验室和临床经验。
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Evaluation of a capillary blood collection system for screening for hemoglobinopathies in remote areas.评价一种用于偏远地区血红蛋白病筛查的毛细血管采血系统。
Int J Lab Hematol. 2010 Feb;32(1 Pt 1):e57-63. doi: 10.1111/j.1751-553X.2008.01096.x. Epub 2008 Aug 25.
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Experience with newborn screening using isoelectric focusing.
Pediatrics. 1989 May;83(5 Pt 2):852-4.
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Laboratory screening of hemoglobinopathies.血红蛋白病的实验室筛查。
Health Lab Sci. 1975 Apr;12(2):91-9.
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Hemoglobin variant detection from dried blood specimens by high performance liquid chromatography.通过高效液相色谱法从干血标本中检测血红蛋白变异体
Ann Clin Lab Sci. 1993 Nov-Dec;23(6):433-8.

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HPLC studies in hemoglobinopathies.
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Neonatal screening for sickle cell disorders: what about the carrier infants?镰状细胞疾病的新生儿筛查:携带致病基因的婴儿怎么办?
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