Rapid, affordable and efficient screening of multiple blood abnormalities made possible using an automated tool for MALDI-ToF spectrometry analysis

Screening programs for genetic and metabolic diseases such as haemoglobinopathies, thalassemias and diabetes are a worldwide problem that faces economic and technological limitations. This is mainly because genetic and metabolic tests are too expensive and time consuming to be implemented. MALDI-ToF mass spectrometry is a rapid and affordable high throughput technique with diagnostic potential for these diseases but still constrained by the timing and complexity of data analysis. To overcome this technological limitation, we developed a fully automated software solution in our MALDI-ToF instrument towards the detection of haemoglobinopathies, thalassemias and diabetes on one blood card sample. The software was tested for its efficiency and accuracy on 171 blood samples rendering 30-fold faster analysis with less bias and rounding errors in comparison with the manual approach. In this study, we identified the variability associated with the disease biomarkers in healthy individuals and successfully applied predictive models to detect blood abnormalities. Taken together, we demonstrated in this study that population screening of multiple blood disorders is made possible using MALDI-ToF technology in combination with automated software tools.