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滤纸干血片法毛细管电泳 Hb Bart′s 带筛查新生儿α-珠蛋白生成障碍性贫血的应用价值评价

万志丹 陈敬林 黄湘 吴学威 李冬秀 钟裕恒

检验医学与临床2016,Vol.13Issue(7):893-895,3.
检验医学与临床2016,Vol.13Issue(7):893-895,3.DOI:10.3969/j.issn.1672-9455.2016.07.012

滤纸干血片法毛细管电泳 Hb Bart′s 带筛查新生儿α-珠蛋白生成障碍性贫血的应用价值评价

Assessment on application value of Hb Bart′s band by capillary electrophoresis with dried blood filter paper for screening ;neonatal α-thalassemia

万志丹 1陈敬林 1黄湘 1吴学威 1李冬秀 1钟裕恒1

作者信息

  • 1. 南方医科大学附属中山博爱医院新生儿疾病筛查中心,广东中山 528403
  • 折叠

摘要

Abstract

Objective To assess the clinical application value of dried blood spot capillary electrophoresis in testing Hb Bart′s band for screening neonatalα‐thalassemia .Methods The level of Hb Bart′s band in 2 987 neonatal heel blood samples was detected by using the dried blood spot capillary electrophoresis and the genotypes analysis was performed .Then the fourfold table method was adopted to analyze the screening value of the Hb Bart′s band inα‐thalassemia .Results Among 2 987 cases of dried blood spot samples ,131 cases of positive Hb Bart′s band were screened out with the screening positive rate of 4 .39% (131/2 987) .The gene analysis showed that α‐thalassemia genes in 226 cases included 2 categories 6 types .The sensitivity of Hb Bart′s band in diagnosing α‐thalassemia was 50 .00% (113/226) ,the false positive rate was 0 .65% (18/2 761) ,the specificity was 99 .35% (2 743/2 761) and the false negative rate was 50 .00% (113/226);the screening sensitivity of Hb Bart′s ban in HbH disease was up to 100 .00% ,which in standardα‐thalassemia was 90 .99% (101/111) ,which in‐α(3 .7)/αα,‐α(4 .2)/ααsilentα‐thalasse‐mia and non‐deletion genotypes of α‐thalassemia was lower .Conclusion The Hb Bart′s band has high specificity in screening neonatalα‐thalassemia by using the dried blood spot capillary electrophoresis and high sensitivity in screen‐ing HbH disease and standard α‐thalassemia ,but limited value for screening silent α‐thalassemia and non‐deletion genotypes of α‐thalassemia .

关键词

干血片/Hb Bart′s带/α-珠蛋白生成障碍性贫血

Key words

dried blood spot/Hb Bart′s band/α-thalassemia

引用本文复制引用

万志丹,陈敬林,黄湘,吴学威,李冬秀,钟裕恒..滤纸干血片法毛细管电泳 Hb Bart′s 带筛查新生儿α-珠蛋白生成障碍性贫血的应用价值评价[J].检验医学与临床,2016,13(7):893-895,3.

基金项目

广东省医学科研基金资助项目(A2014890);广东省中山市科技计划资助项目(2014A1FC006)。 ()

检验医学与临床

1672-9455

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