OBJECTIVES: Thalassemia is one of the most prevalent and influential familial genetic diseases in South China. This disease not only brings serious harm to human body but also brings great mental stress and economic burden to society and family. The aim of this review is to understand the epidemiological burden, economic burden, and health service utilization of β-thalassemia in China.

METHODS: PubMed, Web of Science, China National Knowledge Infrastructure, Wanfang Data, and Chinese BioMedical Literature Database were searched for publications up to 31 Dec 2021. The main inclusion criteria were studies on the economic burden of β-thalassemia disease, epidemiological features, patient quality of life, and health service utilization in China.

RESULTS: 166 articles were identified for inclusion in the study. The prevalence of β-thalassemia ranged from 1% to 6% in China. The overall gene carrier rate of β-thalassemia in southern China was between 1% and 8%. Children with β-thalassemia start transfusion therapy from 2 months to 6 years of age, and termination of transfusion in (6.23 ± 4.86) years old. Approximately 90% of intermediate and severe β-thalassemia patients concentrated between 0 and 15 years old. The monthly cost of treatment was in the range of (3,803.91±1,976.99) RMB if they received regular blood transfusion and iron removal treatment. In addition, the disease itself and the side effects of treatment, as well as the physical and social functional limitations caused by the chronic disease, seriously affect their mental health.

CONCLUSIONS: The prevalence of thalassemia varies widely among different provinces in China, and the gene carrier rate generally shows a high carrier rate in low-latitude regions. β-thalassemia disease burden is more severe compared with other hematologic diseases. Because of the high cost of treatment, the standardized treatment is severely inadequate, which affects the survival and quality of life of patients.