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首页> 外文期刊>Thalassemia Reports >Diagnostic strategies in hemoglobinopathy testing, the role of a reference laboratory in the USA
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Diagnostic strategies in hemoglobinopathy testing, the role of a reference laboratory in the USA

机译：血红蛋白病测试中的诊断策略，美国参考实验室的作用

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Although commonly assessed in the context of microcytosis or sickling syndrome screening, hemoglobin mutations may not be as readily considered as a cause of other symptoms. These include macrocytosis with or without anemia, chronic or episodic hemolysis, neonatal anemia, erythrocytosis, cyanosis/hypoxia and methemoglobinemia/ sulfhemoglobinemia. Hemoglobin disorders commonly interfere with the reliability of Hb A1c measurement. Because the clinical presentation can be varied and the differential diagnosis broad, a systematic evaluation guided by signs and symptoms can be effective. A tertiary care reference laboratory is particularly challenged by the absence of pertinent clinical history and relevant laboratory findings, and appropriate use of resources in a data vacuum can be problematic. To address these issues, our laboratory has constructed testing panels with a tiered strategy utilizing screening assays that detect the most common causes and reflexing additional assays that assess less common etiologies. See Figure 1. Our testing algorithm panels include a rapid hemoglobin fraction monitoring test, a generic diagnostic hemoglobin electrophoresis profile, and more specific diagnostic evaluations for microcytic anemia, hereditary hemolytic anemia, methemoglobinemia and sufhemoglobinemia and erythrocytosis. Use of these testing strategies has facilitated the identification of rare and complex hemoglobin disorders from a wide variety of ethnic groups, including over 500 distinct named alpha, beta and gamma variants (of which 60+ were novel variants at the time of first detection), 99 beta thalassemia mutations and greater than 20 large deletional beta globin cluster deletion subtypes.
机译：尽管通常在微细胞增多症或镰刀综合症筛查的背景下进行评估，但血红蛋白突变可能不容易被认为是其他症状的原因。这些包括伴有或不伴贫血的巨噬细胞，慢性或发作性溶血，新生儿性贫血，红细胞增多症，紫po /低氧和高铁血红蛋白血症/血红蛋白血红蛋白。血红蛋白异常通常会干扰Hb A1c测量的可靠性。由于临床表现可以变化并且鉴别诊断范围广泛，因此以体征和症状为指导的系统评价可能是有效的。没有相关的临床病史和相关的实验室检查结果，对三级医疗参考实验室尤其具有挑战性，并且在数据真空中正确使用资源可能会出现问题。为了解决这些问题，我们的实验室采用分层策略构建了测试小组，该策略采用了检测最常见病因的筛查测定法，并采用了评估不太常见病因的其他测定法。参见图1。我们的测试算法面板包括快速的血红蛋白分数监测测试，通用的诊断性血红蛋白电泳图谱，以及针对小细胞性贫血，遗传性溶血性贫血，高铁血红蛋白血症和亚血红蛋白血症和红细胞增多症的更具体的诊断评估。这些测试策略的使用有助于从各种种族中识别罕见和复杂的血红蛋白疾病，包括500多种不同的命名的α，β和γ变体（首次发现时有60多种是新变体）， 99种β地中海贫血突变和20种以上的大型缺失β珠蛋白簇缺失亚型。

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