## 3 Results
### Detected Cases of Blood Abnormalities  
In this screening study, we have systematically applied predictive models for haemoglobinopathies, thalassemias and diabetes detection on blood mass spectra using the automated software tool (see Section 2.6 for details). Using these models, we obtained low probabilities (p \(<\) 0.4) of having each of the analyzed diseases in healthy individuals with blood dilutions of 1:500 and 1:1000. This indicates that the predictive models used were robust in their capacity to discard blood abnormalities accounting for natural variability in these conditions. For the dilution of 1:2000, we also obtained low probabilities (p \(<\) 0.4) of having diseases in healthy individuals, except for \(\beta\)-thalasemia detection. For this disease, the model predicted low probabilities of having \(\beta\)-thalasemia in 80% of healthy individuals and probabilities between 0.4 and 0.58 for the remaining individuals. This further indicates that lowering the concentration of blood down to 1:2000 increases the uncertainty in predicting \(\beta\)-thalasemia. During our blood screening study, we have not detected any haemoglobinopathy but detected a possible \(\alpha\)-thalasemia case with a probability of 0.68, which has been further analyzed on the mass spectrum (Figure 4). The blood mass spectrum in this particular case shows a reduced abundance of \(\alpha\)-globin in comparison with \(\beta\)-globin suggesting \(\alpha\)-thalasemia blood abnormality. Despite this abnormality, the other blood markers were within the range of variation of a healthy individual indicating no \(\alpha\)-globin saturation. Mass spectrum passed all quality control checking, where no baseline deviations and no presence of contaminants were detected. This further supports that the obtained high \(\beta\)-globin to \(\alpha\)-globin ratio is due to an \(\alpha\)-thalasemia scenario. We also detected three potential pre-diabetes cases in our screening, which were discarded from the healthy control group. The mass spectra of these individuals resulted in calculated percentages of glycated \(\alpha\)-globin between 4.5% and 7.6% (see example in Figure 5). These percentages were 1-3% higher than those observed for healthy individuals, and near the range of values reported for haemoglobin of pre-diabetic patients (6% to 6.4%) [25]. This further suggests an abnormal percentage of glycated \(\alpha\)-globin that can be associated with either a pre-diabetic or controlled diabetic status. Figure 4: Mass spectrum of the blood of an individual predicted to have \(\alpha\)-thalasemia. The detected peaks of \(\alpha\)-globin, \(\beta\)-globin and glycated \(\alpha\)-globin are indicated with +. The \(\alpha\)-globin and \(\beta\)-globin mass distance value (\(m\)/\(z\)) is indicated with black dashed lines and the calculated value indicated below. The mass spectrum was generated with 1:1000 blood dilution and visualized using the automated software tool. A sample from a patient with uncontrolled diabetes was also analyzed in this study using the software tool (Figure 6). In this case, the mass spectrum showed a much higher percentage of glycated \(\alpha\)-globin in comparison with healthy individuals and putative pre-diabetics. In this case, the glycated \(\alpha\)-globin shows a well resolved peak, resulting in a 3-fold higher percentage than the reported threshold for diabetes diagnosis [25]. As expected, the calculated probability using the model was maximum for having diabetes. In general, no other disease was detected in the mass spectra of pre-diabetic and diabetic blood samples and no spectral issues were detected, supporting a correct identification of this disease using our approach. Figure 5: Mass spectrum of a blood sample of a putative pre-diabetic individual. The detected peak of \(\alpha\)-globin, \(\beta\)-globin and glycated \(\alpha\)-globin are indicated with +. The \(\alpha\)-globin and \(\beta\)-globin mass distance value (\(m/z\)) is indicated with black dashed lines and the calculated value indicated below.