Quantification of hemoglobin peptides in Beta-thalassemia patients using tandem mass spectrometry for future national screening program

Background β-thalassemia is a hereditary blood disorder characterized by reduced or absent synthesis of the β chains of hemoglobin resulting in variable disease severity. The high carrier rate of thalassemia in Egypt makes it a priority genetic disease for prevention programs through detection of new cases and screening for carriers. Patients and methods In this study, for the first time in Egypt, tandem mass spectrometry (MS/MS) is used to distinguish patients with β-thalassemia from carriers and controls by calculation of α/β globin peptides ratio, as a contributory step in the management of this disease. The study included 40 patients with β-thalassemia referred from the Hereditary Blood Disorders Clinic, National Research Centre, 32 β-thalassemia carriers (parents of cases), and 34 healthy normal participants of matching age and sex. Dried blood spots from all participants were analyzed using MS/MS, followed by confirmatory molecular analysis. Results The results of MS revealed that α T1/β T1 globin peptides ratio is the most informative ratio that could be used to differentiate between β-thalassemia cases, carriers, and normal participants. The mean value of α T1/β T1 ratio for the studied cases was 4.24±0.97 (4.41±1.092 for thalassemia major and 3.83±0.88 for thalassemia intermedia), 1.93±0.30 for carriers, and 1.20±0.06 for controls, with statistical significant difference (P Conclusion In conclusion, distinguishing patients from carriers and controls through tandem mass technology can serve as a cost-effective tool for national screening program for thalassemia in Egypt.