Division of Clinical Immunology, Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand.
Biomedical Technology Research Center, National Center for Genetic Engineering and Biotechnology, National Science and Technology Development Agency at the Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand.
PLoS One. 2019 Oct 29;14(10):e0223996. doi: 10.1371/journal.pone.0223996. eCollection 2019.
α0-Thalassemia is an inherited hematological disorder caused by the deletion of α-globin genes. The Southeast Asian deletion (--SEA) is the most common type of α0-thalassemia observed in Southeast Asian countries. Regarding WHO health policy, an effective α0-thalassemia screening strategy is needed to control new severe α-thalassemia cases. In this study, a monoclonal antibody panel was used to develop immunochromatographic (IC) strip tests for detecting the Hb Bart's and ζ-globin chain. Among 195 samples, all α0-thalassemia traits (78 α0-thalassemia (--SEA) and 4 α0-thalassemia (--THAI)) had low MCV or MCH values. The sensitivity, specificity, PPV and NPV of the IC strip tests for ζ-globin and Hb Bart's for screening α0-thalassemia (--SEA) within the low MCV or MCH samples were 100%, 65.2%, 90.7%, 100% and 96.2%, 47.8%, 86.6%, 78.6%, respectively. All 4 α0-thalassemia (--THAI) traits were negative for ζ-globin chains but positive for Hb Bart's using the IC strip tests. These results led to a α0-thalassemia screening being proposed in which blood samples are first evaluated by MCV, MCH and Hb typing. Samples with high MCV and MCH values are excluded for the presence of the α0-thalassemia gene. Samples with low MCV or MCH values are assayed using the developed IC strip tests, where only samples testing positive are further assayed for α0-thalassemia by PCR. Patients with Hb H, EA Bart's or EF Bart's diseases do not need to use this IC strip assay. Thus, in this study, a simple and cost effective α0-thalassemia point of care test was developed.
α0-地中海贫血是一种遗传性血液疾病，由α-珠蛋白基因缺失引起。东南亚缺失（--SEA）是东南亚国家最常见的α0-地中海贫血类型。根据世界卫生组织的卫生政策，需要制定有效的α0-地中海贫血筛查策略来控制新的严重α-地中海贫血病例。在这项研究中，使用单克隆抗体面板开发了免疫层析（IC）条检测 Hb Bart's 和 ζ-珠蛋白链。在 195 个样本中，所有α0-地中海贫血特征（78 个α0-地中海贫血（--SEA）和 4 个α0-地中海贫血（--THAI））的 MCV 或 MCH 值均较低。IC 条检测 ζ-珠蛋白和 Hb Bart's 对低 MCV 或 MCH 样本中α0-地中海贫血（--SEA）的灵敏度、特异性、PPV 和 NPV 分别为 100%、65.2%、90.7%、100%和 96.2%、47.8%、86.6%、78.6%。所有 4 个α0-地中海贫血（--THAI）特征均为 ζ-珠蛋白链阴性，但使用 IC 条检测 Hb Bart's 为阳性。这些结果导致提出了一种α0-地中海贫血筛查方法，首先通过 MCV、MCH 和 Hb 类型评估血液样本。MCV 和 MCH 值较高的样本排除存在α0-地中海贫血基因。MCV 或 MCH 值较低的样本使用开发的 IC 条检测，仅对检测阳性的样本进一步进行 PCR 检测α0-地中海贫血。Hb H、EA Bart's 或 EF Bart's 疾病患者无需使用此 IC 条检测。因此，在这项研究中，开发了一种简单且具有成本效益的α0-地中海贫血即时检测方法。
