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Updated: Jul 10, 2026
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Enhancing thalassemia gene carrier identification in non-anemic populations using artificial intelligence erythrocyte
Fan Zhang1, Jieyu Zhan2, Yang Wang1
1Department of Laboratory Science, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Background:
Non-anemic thalassemia trait (TT) accounted for a high proportion of TT cases in South China.
Objective:
To use artificial intelligence (AI) analysis of erythrocyte morphology and machine learning (ML) to identify TT gene carriers in a non-anemic population.
Methods:
Digital morphological data from 76 TT gene carriers and 97 controls were collected. The AI technology-based Mindray MC-100i was used to quantitatively analyze the percentage of abnormal erythrocytes. Further, ML was used to construct a prediction model.
Results:
Non-anemic TT carriers accounted for over 60% of the TT cases. Random Forest was selected as the prediction model and named TT@Normal. The TT@Normal algorithm showed outstanding performance in the training, validation, and external validation sets and could efficiently identify TT carriers in the non-anemic population. The top three weights in the TT@Normal model were the target cells, microcytes, and teardrop cells. Elevated percentages of abnormal erythrocytes should raise a strong suspicion of being a TT gene carrier. TT@Normal could be promoted and used as a visualization and sharing tool. It is accessible through a URL link and can be used by medical staff online to predict the possibility of TT gene carriage in a non-anemic population.
Conclusions:
The ML-based model TT@Normal could efficiently identify TT carriers in non-anemic people. Elevated percentages of target cells, microcytes, and teardrop cells should raise a strong suspicion of being a TT gene carrier.
