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

Background: 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, which is available for evaluation in over seventy countries as an Android app, called SUSOKA[16].

Methods: 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.

Results: 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. K-means clustering and the ranking from MCDM methods show that SCS, 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.

Conclusion: 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 and Shine & Lal formula, and ELM and GBC are recommended for screening BTT based on MCDM. SCS can be used with certainty as a tangible cost-saving screening tool for mass screening for antenatal women in India and other countries.