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Multicenter Evaluation of HemoTypeSC as a Point-of-Care Sickle Cell Disease Rapid Diagnostic Test for Newborns and Adults Across India.

多中心评价headtypesc作为印度新生儿和成人的床旁镰状细胞病快速诊断试验。

  • 影响因子:2.13
  • DOI:10.1093/ajcp/aqz108
  • 作者列表:"Mukherjee MB","Colah RB","Mehta PR","Shinde N","Jain D","Desai S","Dave K","Italia Y","Raicha B","Serrao E
  • 发表时间:2020-01-01
Abstract

OBJECTIVES:Sickle cell anemia is the commonest genetic disorder in India, and the frequency of the sickle cell gene is very high in the remote tribal areas where facilities are generally limited. Therefore, a rapid and affordable point-of-care test for sickle cell disease is needed. METHODS:The diagnostic accuracy of HemoTypeSC was evaluated against automated high-performance liquid chromatography (HPLC) as the gold standard for its efficacy in a newborn screening program. RESULTS:A total of 1,559 individuals (980 newborns and 579 adults) from four participating centers were analyzed by both methods. HemoTypeSC correctly identified 209 of 211 total hemoglobin (Hb) SS cases, for a 99.1%/99.9% total HbSS sensitivity/specificity. Overall, HemoTypeSC exhibited sensitivity and specificity of 98.1% and 99.1% for all possible phenotypes (HbAA, HbAS, and HbSS) detected. HPLC is relatively expensive and not available in most laboratories in remote tribal areas. CONCLUSIONS:We conclude that the rapid, point-of-care testing device HemoTypeSC test is suitable for population and newborn screening for the HbS phenotype.

摘要

目的: 镰状细胞性贫血是印度最常见的遗传性疾病,在设施普遍有限的偏远部落地区,镰状细胞基因的频率非常高。因此,需要一个快速和负担得起的镰状细胞病即时检测。 方法: 采用自动高效液相色谱法 (HPLC) 作为新生儿筛查项目中headtypesc疗效的金标准,评价其诊断准确性。 结果: 通过两种方法共分析了来自 4 个参与中心的 1,559 例个体 (980 例新生儿和 579 例成人)。HemoTypeSC正确识别了 209 例总血红蛋白 (Hb) SS病例中的 211 例,总HbSS敏感性/特异性为 99.1%/99.9%。总体而言,对于检测到的所有可能表型 (HbAA、HbAS和HbSS),HemoTypeSC的敏感性和特异性分别为 98.1% 和 99.1%。HPLC相对昂贵,在偏远部落地区的大多数实验室都没有。 结论: 我们得出结论,快速即时检测装置headtypesc试验适用于人群和新生儿筛查HbS表型。

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影响因子:1.74
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影响因子:2.13
发表时间:2020-01-01
DOI:10.1093/ajcp/aqz108
作者列表:["Mukherjee MB","Colah RB","Mehta PR","Shinde N","Jain D","Desai S","Dave K","Italia Y","Raicha B","Serrao E"]

METHODS:OBJECTIVES:Sickle cell anemia is the commonest genetic disorder in India, and the frequency of the sickle cell gene is very high in the remote tribal areas where facilities are generally limited. Therefore, a rapid and affordable point-of-care test for sickle cell disease is needed. METHODS:The diagnostic accuracy of HemoTypeSC was evaluated against automated high-performance liquid chromatography (HPLC) as the gold standard for its efficacy in a newborn screening program. RESULTS:A total of 1,559 individuals (980 newborns and 579 adults) from four participating centers were analyzed by both methods. HemoTypeSC correctly identified 209 of 211 total hemoglobin (Hb) SS cases, for a 99.1%/99.9% total HbSS sensitivity/specificity. Overall, HemoTypeSC exhibited sensitivity and specificity of 98.1% and 99.1% for all possible phenotypes (HbAA, HbAS, and HbSS) detected. HPLC is relatively expensive and not available in most laboratories in remote tribal areas. CONCLUSIONS:We conclude that the rapid, point-of-care testing device HemoTypeSC test is suitable for population and newborn screening for the HbS phenotype.

翻译标题与摘要 下载文献
血红蛋白病方向

由于血红蛋白分子结构异常(异常血红蛋白病),或珠蛋白肽链合成速率异常(珠蛋白生成障碍性贫血,又称海洋性贫血)所引起的一组遗传性血液病。

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