A multi-screening test based on the coupling of thermogravimetry and chemometrics was optimized for the differential diagnosis of hereditary hemolytic anemias. The novel test is able to simultaneously perform a simple and fast diagnosis of sickle cell anemia, thalassemia, hereditary spherocytosis and hereditary elliptocytosis in a single analysis of a few microliters of non-pretreated whole blood. The thermogravimetric profile of blood from patients affected by such disorders was found to be characteristic of a specific anemic status or a disorder due to membrane defects. In addition, chemometric tools were used to validate a model of prediction to process the thermogravimetric curves and to obtain in 1 hour an accurate diagnosis. The effectiveness of the novel test was evaluated by comparing results with the confirmatory analyses specific for each disorder. The TGA/chemometric test made it possible to perform a first level test of congenital erythrocyte defects, including the hemoglobinopathies and disorders due to membrane defects with the same accuracy of confirmatory analyses obtained by molecular investigation. In addition, the novel test was used for the diagnosis of a number of Italian difficult cases, including neonatal patients for which the conventional screening tests did not manage to obtain a diagnosis confirming the high prediction ability of the single multiscreening test.

中文翻译：

---

通过TGA /化学计量学在一次多重筛选试验中对遗传性溶血性贫血进行鉴别诊断。

优化了基于热重和化学计量学结合的多重筛选测试，用于遗传性溶血性贫血的鉴别诊断。通过对几微升未经预处理的全血进行单次分析，该新颖的测试能够同时快速简单地诊断镰状细胞性贫血，地中海贫血，遗传性球囊细胞增多症和遗传性椭圆细胞增多症。发现来自受此类疾病影响的患者的血液的热重图谱是特定贫血状态或由于膜缺陷引起的疾病的特征。此外，使用化学计量工具来验证预测模型，以处理热重曲线并在1小时内获得准确的诊断结果。通过将结果与每种疾病特异的确认分析进行比较，评估了新测试的有效性。TGA /化学计量学测试可以对先天性红细胞缺陷（包括由膜缺陷引起的血红蛋白病和疾病）进行一级测试，并且具有通过分子研究获得的确证分析的准确性。另外，该新颖测试用于诊断许多意大利疑难病例，包括新生儿患者，而常规筛查测试未能设法获得这种诊断，从而证实了单次多重筛查测试的高预测能力。包括由于膜缺陷引起的血红蛋白病和疾病，与通过分子研究获得的确证分析的准确性相同。另外，该新颖测试用于诊断许多意大利疑难病例，包括新生儿患者，而常规筛查测试未能设法获得这种诊断，从而证实了单次多重筛查测试的高预测能力。包括由于膜缺陷引起的血红蛋白病和疾病，与通过分子研究获得的确证分析的准确性相同。另外，该新颖测试用于诊断许多意大利疑难病例，包括新生儿患者，这些患者的常规筛查测试未能获得确诊单一多重筛查测试的高预测能力的诊断。