Development of a low-cost and high-throughput LC-MS method for newborn screening of thalassemia and abnormal hemoglobin disorders.

Background: Screening and pre-symptomatic diagnosis in newborns allows early treatment of thalassemia and abnormal hemoglobin (Hb) disorders in childhood. However, there remains a lack of efficient methods to screen for hemoglobinopathies in newborns. This study aimed to establish a bottom-up mass spectrometry (MS)-based method for efficient screening of hemoglobinopathies in newborns using dried blood spot (DBS) samples.