Serum Metabolite Profiles Are Strongly Correlated With Membrane Lipid Alterations In Beta Thalassemia Patients

Background-Aim. Despite significant improvements in the diagnosis and treatment of beta thalassemia, it is still challenging to understand how genetic variation affects disease progression. In addition, the search for new personalized therapies targeting ineffective erythropoiesis and the increasing demand for tools to monitor the long-term effects of existing therapies provide the setting for metabolomics integration in thalassemia studies. Metabolomics enables the profiling of large numbers of small molecules in cells, tissues and biological fluids. These molecules include amino acids, carbohydrates, lipids, nucleotides and their metabolites. Currently, several different analytical platforms exist for metabolomics, and both untargeted and targeted methodologies are being employed. According to our knowledge, studies for metabolite identification in the blood or urine of beta thalassemia patients are still scarce. We hypothesized that untargeted metabolomics approach that assess changes in global metabolite profiles may provide valuable information regarding the biochemistry of disease processes and identify new biomarkers.