Abstract
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.
Highlights
Haemoglobinopathies and thalassemias are inherited genetic mutations in the α and β subunits of haemoglobin that have been classified worldwide as endemic diseases and frequently observed inAsia, Middle East and African populations [1]
For α thalassemia and diabetes, we modelled disease detection (Equation (2)) by considering only the left side of the Gaussian distribution and assuming maximum probability when the respective biomarker value (Xi) of the sample is higher than the threshold value for the reported for the disease biomarker
We modelled the detection based on the probability of not being in normal ranges for ratio between β-globin and α-globin (Rβα), only considering the left side of the biomarker variation (Equation (3))
Summary
Middle East and African populations [1] These genetic alterations lead to abnormal expression and structural changes in haemoglobin, often resulting in anemia and has been estimated that 5% of the population suffers from its symptoms [1,2]. The diagnostic of these diseases is based on expensive and time-consuming genetic tests that are not affordable for screening large populations, making this a huge problem for national health care systems [3,4,5].
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