干血斑的应用：赞比亚镰状细胞贫血新生儿筛查项目引入的潜在工具。
The Use of Dried Blood Spots: A Potential Tool for the Introduction of a Neonatal Screening Program for Sickle Cell Anemia in Zambia.
作者信息
Chindima Nanjela, Nkhoma Panji, Sinkala Musalula, Zulu Mildred, Kafita Doris, Simakando Marah, Mwaba Florence, Mantina Hamakwa, Mutale Mubanga
机构信息
Department of Biomedical Sciences, School of Medicine, The University of Zambia, Lusaka, Zambia.
Department of Pathology and Microbiology, School of Medicine, The University of Zambia, Lusaka, Zambia.
出版信息
Int J Appl Basic Med Res. 2018 Jan-Mar;8(1):30-32. doi: 10.4103/ijabmr.IJABMR_105_16.
CONTEXT
Sickle cell disease is a group of hemoglobin (Hb) disorders resulting from the inheritance of the sickle β-globin gene. It is the most common pathological Hb mutation worldwide with 75% being born in Sub-Saharan Africa.
AIMS
This study aims to determine if dried blood spots (DBSs) can be used for diagnosis of sickle cell in newborns. In Zambia, there is no neonatal screening program for sickle cell anemia (SCA), yet it has been proved that early diagnosis by newborn screening (NBS) using DBSs and access to comprehensive care results in survival to adulthood of over 96% of sickle cell patients.
SETTINGS AND DESIGN
A cross-sectional study was carried out at the University Teaching Hospital to determine whether DBSs can be used to diagnose sickle cell using Hb electrophoresis.
SUBJECTS AND METHODS
Results from DBSs stored for 2 weeks were then compared to those obtained using freshly collected whole blood.
STATISTICAL ANALYSIS USED
To evaluate performance characteristics, the following values were used: true positive, false positive, true negative, and false negative.
RESULTS
Ninety-seven participants were included in this study. DBSs had a sensitivity of 100%, a specificity of 94.7%, positive predictive value of 96.7%, negative predictive value of 100%, overall efficiency of 97.9%, and a Kappa , < 0.0001 in comparison to fresh whole blood which we used as the gold standard.
CONCLUSIONS
The use of DBSs can be recommended for NBS of SCA in Zambia due to its high sensitivity, specificity, and stability of hemoglobin.
背景
镰状细胞病是一组由镰状β-珠蛋白基因突变遗传引起的血红蛋白（Hb）疾病。它是全球最常见的病理性Hb突变，75%的患者出生在撒哈拉以南非洲。
目的
本研究旨在确定干血斑（DBS）是否可用于新生儿镰状细胞病的诊断。在赞比亚，没有针对镰状细胞贫血（SCA）的新生儿筛查项目，但已证明使用DBS进行新生儿筛查（NBS）并获得全面护理可使超过96%的镰状细胞病患者存活至成年。
设置与设计
在大学教学医院开展了一项横断面研究，以确定DBS是否可用于通过Hb电泳诊断镰状细胞病。
研究对象与方法
将储存2周的DBS结果与使用新鲜采集的全血获得的结果进行比较。
所用统计分析方法
为评估性能特征，使用了以下数值：真阳性、假阳性、真阴性和假阴性。
结果
本研究纳入了97名参与者。与我们用作金标准的新鲜全血相比，DBS的灵敏度为100%，特异度为94.7%，阳性预测值为96.7%，阴性预测值为100%，总体效率为97.9%，Kappa值<0.0001。
结论
由于DBS具有高灵敏度、特异度和血红蛋白稳定性，因此推荐在赞比亚将其用于SCA的新生儿筛查。
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