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Development of a novel test for the identification of hereditary erythrocyte membrane defects by TGA/Chemometrics.
Analyst ( IF 4.2 ) Pub Date : 2020-05-27 , DOI: 10.1039/d0an00649a
Stefano Materazzi 1 , Patrizia Caprari , Giuseppina Gullifa , Sara Massimi , Elena Carcassi , Roberta Risoluti
Affiliation  

Systematic screening for congenital erythrocyte disorders is not a common practice, due to a lack in the accuracy of the methods and to the costs of the analyses. As a consequence, the diagnosis is usually made when a severe complication occurs. This study introduces an innovative method to perform the screening of a hereditary disease characterized by erythrocyte membrane defects such as hereditary spherocytosis (HS) and hereditary elliptocytosis (HE). Blood samples from healthy donors and patients affected by HS and HE were processed by thermogravimetric analysis (TGA) and the resulting curves were analyzed by chemometrics in order to develop a model of prediction. A novel test was developed and validated by chemometrics and results were found to be in accordance with the genetic diagnosis, confirming the prediction ability of the optimized model that uses few microliters of whole non pretreated blood to perform the diagnosis of HS/HE in less than one hour.

中文翻译:

通过TGA / Chemometrics开发一种新的鉴定遗传性红细胞膜缺陷的测试方法。

由于缺乏方法的准确性和分析的成本,对先天性红细胞疾病进行系统的筛查不是一种普遍的做法。结果,通常在发生严重并发症时进行诊断。这项研究引入了一种创新的方法来进行以红细胞膜缺陷为特征的遗传性疾病的筛查,例如遗传性球囊细胞增多症(HS)和遗传性椭圆细胞增多症(HE)。通过热重分析(TGA)处理来自健康供体和受HS和HE影响的患者的血样,并通过化学计量学分析所得曲线,以建立预测模型。开发了一种新颖的测试方法,并通过化学计量学进行了验证,结果与遗传学诊断相符,
更新日期:2020-06-29
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