Morphology-based classification of sickle cell disease and β-thalassemia using a low-cost automated microscope and machine learning
Bibliographic record
Abstract
Abstract Sickle cell disease (SCD) and β-thalassemia are the most common monogenic diseases, disproportionately affecting low- and middle-income countries, where low-cost and accurate diagnostic tools are needed to reduce the global disease burden. Although the sickling test is commonly used to screen for the sickle mutation, it cannot distinguish between the asymptomatic sickle cell trait (SCT) and SCD, or identify β-thalassemia. Here, we enhanced the inexpensive sickling test using automated microscopy and morphology-based machine learning classification to detect SCD, trait conditions (SCT and β-thalassemia trait) and normal individuals with an overall area under receiver operating curve, sensitivity and specificity of 0.940 (95% confidence intervals: 0.938-0.942), 84.6% (84.2%-84.9%), and 92.3% (92.1%-92.4%), respectively. Notably, the sensitivity and specificity to detect severe disease (SCD) was over 97% and 98%, respectively, thus establishing a low-cost automated screening option for disease detection in low-resource settings. Furthermore, leveraging high-throughput microscopy, we generated an open-access dataset comprising over 300,000 images with 1.5 trillion segmented cells from 138 individuals in Canada and Nepal including individuals with sickle and/or β-thalassemia mutations, to accelerate further research.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".