• emoglobinopatie
• hemoglobinopathies
• mass spectrometry
• spettrometria di massa

This thesis work aim at demonstrating the potential role of mass spectrometry-based techniques for the screening of hemoglobinopathies. The approach consists in using a low-resolution triple quadrupole MS instrument (AB Sciex API 3000) to characterize and semi-quantify Hb variants and thalassemias. The method proposed is a two steps approach that combines HPLC-ESI-MS of globin chains with small sample pre-treatment to assign variant molecular weight and semi-quantify relative amount of Hb species and mass spectrometry approach on tryptic digest to structurally characterize these variants.