| Sumario: | BACKGROUND: Traditional phenotype-based screening for β-globin variant and β-thalassemia using hematological parameters is time-consuming with low-resolution detection. Development of a MALDI--TOF--MS assay using alternative markers is needed. METHODS: We constructed a MALDI--TOF--MS- based approach for identifying various β-globin disorders and classifying thalassemia major (TM) and thalassemia intermedia (TI) patients using 901 training samples with known HBB/HBA genotypes. We then validated the accuracy of population screening and clinical classification in 2 separate cohorts consisting of 16 172 participants and 201 β-thalassemia patients. Traditional methods were used as controls. Genetic tests were considered the gold standard for testing positive specimens. RESULTS: We established a prediction model for identifying different forms of β-globin disorders in a single MALDI--TOF--MS test based on δ- to β-globin, γ- to α-globin, γ- to β-globin ratios, and/or the abnormal globin-chain patterns. Our validation study yielded
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