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Updated: Aug 19, 2026
A Point-of-Care Method with Integrated Decision Support Tool to Estimate Anemia at Population Level
Published on: January 19, 2024
Thalassaemia screening in pregnancy
Tse N Leung1, Tze K Lau, Tony Kh Chung
1Academic Division of Obstetrics and Gynaecology, The University of Nottingham, The Medical School, Derby City General Hospital, Derby, UK. dannytnleung@cuhk.edu.hk
Insights
Universal antenatal screening for thalassaemia carriers is recommended in high-prevalence areas. Mean cell haemoglobin or mean corpuscular volume are key screening measures for alpha and beta thalassaemias.
Area of Science:
- Medical Genetics
- Hematology
- Prenatal Diagnostics
Background:
- Thalassaemia disorders are inherited blood conditions requiring effective screening.
- Antenatal detection is crucial for managing and preventing severe forms of thalassaemia.
Purpose of the Study:
- To provide an updated review of antenatal screening and diagnostic methods for thalassaemia disorders.
- To discuss the latest advancements in prenatal diagnosis and molecular basis.
Main Methods:
- Review of current literature on antenatal screening programmes.
- Analysis of diagnostic techniques including molecular, laboratory, and ultrasound methods.
- Evaluation of non-invasive prenatal diagnostic approaches.
Main Results:
- Mean cell haemoglobin (<27 pg) or mean corpuscular volume (<80 fl) are effective screening tools for alpha and beta thalassaemias.
- Haemoglobin pattern and iron profile are recommended for further investigation if red cell indices are low.
- Ultrasound cardiothoracic ratio shows promise for screening alpha thalassaemia major.
Conclusions:
- Universal antenatal screening for thalassaemia carriers should be implemented in high-prevalence populations.
- Invasive prenatal diagnosis remains the gold standard for high-risk couples.
- Non-invasive prenatal diagnosis using maternal plasma is a potential future option.
Purpose Of Review:
This review provide an update on antenatal screening and diagnosis of thalassaemia disorders.
Recent Findings:
The topics covered are the effectiveness of antenatal screening programmes for thalassaemia, its prenatal diagnosis, molecular basis and laboratory findings, ultrasound screening for haemoglobin Bart's disease, and non-invasive prenatal diagnosis of thalassaemia.
Summary:
Universal antenatal screening for thalassaemia carriers should be implemented in populations with a high prevalence of this condition. The appropriate measure to screen for alpha and beta thalassaemias remains mean cell haemoglobin (<27 pg) or mean corpuscular volume (<80 fl). A haemoglobin pattern and iron profile should follow if the red cell indices are low. In a population where alpha thalassaemia is prevalent, it is advisable to check the partner's mean cell haemoglobin or mean corpuscular volume as well. Further cascades of investigations will depend on these results and the prevalence of other haemoglobinopathies in that population. Invasive prenatal diagnosis remains the gold standard for diagnosis in high-risk couples. Provided expertise is available, ultrasound measurement of the cardiothoracic ratio appears a good screening tool for alpha thalassaemia major. Non-invasive prenatal diagnosis by identification of a paternal mutation in maternal plasma, although currently at the experimental stage, may be an option in the future.
