PDF(Pubmed)
Abstract：
The blood counts of α thalassemia carriers (α-thal) are similar to those of β thalassemia carriers, except for Hemoglobin A2 (Hb A2), which is not elevated. The objective of this study was to determine whether mathematical formulas are effective for detecting suspected α-thal. The data were obtained from the database of the prevention program for detecting couples at risk for having a child with hemoglobinopathy. Red Blood Cells (RBC) indices were analyzed using mathematical formulas, and the sensitivity and negative predictive value (NPV) were calculated. Among 1334 blood counts suspected of α-thal analyzed, only the Shine and Lal and the Support Vector Machine formulas revealed high sensitivity and NPV. Sensitivity was 85.54 and 99.33%, and NPV was 98.93 and 99.93%, respectively. Molecular defects were found in 291, and 81 had normal α genes. Molecular analysis was not performed in 962 of the samples. Based on these results, mathematical formulas incorporating one of these reliable formulas for detecting suspected α or β thalassemia carriers in the program of the automatic analyzers can flag these results, increase the awareness of the primary physicians about the carrier risk, and send an alert with a recommendation for further testing.
摘要：
α地中海贫血携带者(α-thal)的血细胞计数与β地中海贫血携带者相似,除了血红蛋白A2（HbA2），它没有被提升。这项研究的目的是确定数学公式是否可有效检测可疑的α-thal。数据来自预防计划的数据库，用于检测有血红蛋白病孩子风险的夫妇。使用数学公式分析红细胞（RBC）指数，计算敏感性和阴性预测值(NPV)。在分析的1334个疑似α-thal的血细胞计数中，只有Shine和Lal以及支持向量机公式显示出高灵敏度和净现值。敏感度为85.54和99.33%，净现值分别为98.93和99.93%，分别。在291中发现了分子缺陷，其中81个具有正常的α基因。在962个样品中未进行分子分析。基于这些结果,在自动分析仪的程序中包含这些可靠公式之一的数学公式，用于检测可疑的α或β地中海贫血携带者，可以标记这些结果，提高初级医生对携带者风险的认识，并发送警报，并建议进一步测试。
