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The present study aims to investigate the mutation spectrum of thalassaemia, and characterise the erythrocyte indices of thalassaemia in a large cohort in Sichuan, which is a province with a high prevalence of thalassaemia in southern China. The present study was conducted from July 2017 to July 2019. A total of 42 155 women screened for thalassaemia were enrolled. The thalassaemia carriers were screened by erythrocyte analysis and haemoglobin electrophoresis. Then, the screening test results and genetic results were collected. A tota