The disease burden of β-thalassaemia revisited

Abstract

Objective: The complexity of β-thalassaemia with associated morbidity, lifelong daily expensive treatment, and multidisciplinary care results in a considerable disease burden. Our study aimed to revisit the β-thalassaemia burden using epidemiological, clinical, and financial indicators related to patients, families, and healthcare systems.

Methods: Patient density measures, transfusion indices, complication rates, universal health coverage, and other indicators were tabulated by country and region. Original English language studies, systematic reviews, the global burden of disease project, the International Thalassaemia Collaborative Study, and other databases were reviewed.

Results: Our spherical approach revealed existing and continuing stark discrepancies between countries and regions in most published reports concerning β-thalassaemia. Our study provides new insights into the difficult task of quantifying such a complex disease burden in the absence of national registries, electronic health records, and updated epidemiological monitoring worldwide.

Conclusion: Disease burden evaluation constitutes a complex and difficult task, especially for hereditary diseases such as β-thalassaemia. Our study revealed stark discrepancies between world regions and countries in most β-thalassaemia indicators examined, including epidemiological, clinical, and psychosocial parameters.

Keywords: Global burden; Thalassaemia International Federation; non-transfusion-dependent thalassaemia; transfusion-dependent thalassaemia; β-thalassaemia.