Amino acid profile in patients with thalassemia major analyzed by liquid chromatography-tandem mass spectrometry

Discovery of a biomarker for β-Thalassemia by HPLC-MS and improvement from Proton Transfer Reaction – Parallel Ion Parking

“…Most Hb variants occur when a missense mutation causes a single amino acid substitution in a globin protein subunit, resulting in a structurally abnormal Hb tetramer, such as sickling hemoglobin, Hb S (β E6V) [2] , [6] , [7] . Thalassemia syndromes are characterized by mutations that cause reduced synthesis of α or β subunits, resulting in under production of Hb [1] , [2] , [8] . The severity of symptoms depends on the nature of the mutation(s).…”