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

Patients with thalassemia major develop secondary iron overload due to ineffective erythropoiesis and recurrent transfusions. Excessive iron overload results in increased non-transferrin-bound iron, which induces tissue injury as it catalyzes the formation of free radical ions. Iron accumulation can impair the structural and functional integrity of the intestines and reduce amino acid availability. Iron overload can be alleviated by iron chelation. Transferrin is the body's natural chelator that predominantly comprises amino acids glycine and aspartic acid. Research has shown lower transferrin levels in patients with iron overload. The present study aimed to assess the changes in iron status and the amino acid profile in patients with thalassemia major. Serum iron; unsaturated iron-binding capacity; total iron-binding capacity; and serum ferritin, glycine, and aspartic acid were assessed in a cohort of 21 patients (13 patients with beta thalassemia major and 8 with beta Hb E thalassemia). The results showed significant changes in iron status: elevated ferritin post-transfusion and decreased ferritin and elevated glycine levels after chelation. Future studies are required to assess the changes in other amino acids.