We investigated the spectrum of α- or β- thalassemia mutations in 11,143 anemic patients in Guilin Region, China.
CD41–42 is the most prevalent β- thalassemia mutation and —SEA is the most prevalent α-thalassemia mutation in Guilin Region.
CD37 and CD 30 were two particularly rare dominant β- thalassemia mutations in Chinese populations.
α- and β- thalassemia mutations of 8 regions in southern China were compared.
Our findings provided new information for genetic counseling on thalassemia.