Performance analysis of machine learning algorithms and screening formulae for β-thalassemia trait screening of...

Currently, more than forty discrimination formulae based on red blood cell (RBC) parameters and some supervised machine learning algorithms (MLAs) have been recommended for β-thalassemia trait (BTT) screening. The present study was aimed to evaluate and compare the performance of 26 such formulae and 13 MLAs on antenatal woman data with a recently developed formula SCS_BTT, which is available for evaluation in over seventy countries as an Android app, called SUSOKA[16].

A diagnostic database of 2942 antenatal females were collected from PGIMER, Chandigarh, India and was used for this analysis. The data set consists of hypochromic microcytic anemia, BTT, Hemoglobin E trait, double heterozygote for Hemoglobin S and BTT, heterozygote for Hemoglobin D Punjab and normal subjects. Performance of the formulae and the MLAs were assessed by Sensitivity, Specificity, Youden's Index, and AUC-ROC measures. A final recommendation was made from the ranking obtained through two Multiple Criteria Decision-Making (MCDM) techniques, namely, Simultaneous Evaluation of Criteria and Alternatives (SECA) and TOPSIS.

It was observed that Extreme Learning Machine (ELM) and Gradient Boosting Classifier (GBC) showed maximum Youden's index and AUC-ROC measures compared to all discriminating formulae. Sensitivity remains maximum for SCS_BTT. K-means clustering and the ranking from MCDM methods show that SCS_BTT, Shine & Lal and Ravanbakhsh-F4 formula ensures higher performance among all formulae. The discriminant power of some MLAs and formulae was found considerably lower than that reported in original studies.

Comparative information on MLAs can aid researchers in developing new discriminating formulae that simultaneously ensure higher sensitivity and specificity. More multi-centric verification of the formulae on heterogeneous data is indispensable. SCS_BTT and Shine & Lal formula, and ELM and GBC are recommended for screening BTT based on MCDM. SCS_BTT can be used with certainty as a tangible cost-saving screening tool for mass screening for antenatal women in India and other countries.