Large-scale modelling of β-thalassaemia carrier prevalence: geostatistical predictions and population estimates from a global evidence base

Background Evidence on {beta}-thalassaemia carrier prevalence is fragmented across heterogeneous surveys and national summaries, leaving within-country variation and geographic concentration of carriers poorly resolved. This study characterises {beta}-thalassaemia carrier prevalence and carrier populations at high spatial resolution and identifies where additional data would most improve geographic coverage. Methods Using carrier-prevalence records curated through ITHANET, a global haemoglobinopathy resource, Bayesian geostatistical modelling generated high-resolution predictions across 25 countries. Predictions were integrated with population data to estimate national and subnational carrier numbers. Prediction uncertainty and gaps in existing survey coverage informed prioritisation of healthcare sites for additional surveys. Findings Predicted prevalence varied markedly within countries, and highest-prevalence areas did not coincide with the largest carrier populations. National mean prevalence was highest in Cyprus (12.99%), whereas India, China, and Pakistan had the largest carrier populations, together accounting for 81.21% of estimated carriers. Random five-fold cross-validation favoured a model capturing broad geographic patterns and location-specific variation. Predictive performance deteriorated when geographically clustered records were withheld together, indicating reduced reliability across larger gaps in geographic sampling and the need for additional data from poorly characterised areas. Survey prioritisation identified 183 healthcare sites across 17 countries for future carrier-prevalence surveys. Interpretation By distinguishing areas of high carrier prevalence, large carrier populations, and evidence gaps, this updatable framework provides a subnational evidence base to inform {beta}-thalassaemia prevention planning and guide future data collection, screening, and genetic counselling.