Background: Thalassemia is one of the most common genetic diseases in southern China. Accurate population frequency data regarding the occurrence and distribution of thalassemia is important for designing appropriate prevention strategies of thalassemia.

Objective: The aim of this study is to reveal the prevalence and the mutation spectrum of thalassemia in neonates in the Wuhan region of central China.

Methods: About 3796 neonates in Wuhan area of China were analyzed by hematological and genetic analysis.

Results: About 2174 subjects were genetically diagnosed as thalassemia carriers or patients, including 1415 cases of α-thalassemia (65.89%), 731 cases of β-thalassemia (33.62%), and 28 cases of α-composite β-thalassemia (1.29%). A total of 11 genotypes and 6 gene mutations were identified in α-thalassemia anomalies, with -SEA/deletion (50.72%), -α3.7/deletion (36.36%), and -α4.2/deletion (7.38%) being the most common α-thalassemia mutations. β-thalassemia anomalies were associated with 17 genotypes and 12 gene mutations; IVS-2-654 mutation was the most common (41.18%), followed by CD41-42 (23.14%), CD17 (14.64%), CD26 (7.32%), and CD27-28 (4.58%) mutations. In addition, 13 genotypes were identified in α-composite β-thalassemia in thalassemia carrier, with the top six genotypes being IVS-2-654/N/-SEA/αα (17.86%), CD17/N/-α3.7/αα (17.86%), IVS-2-654/N/-α3.7/αα (14.29%), CD41-42/N/-SEA/αα (10.71%), CD71-72/N/-α3.7/αα (7.14%), and Cap/N/-SEA/αα (7.14%).

Conclusions: There was high heterogeneity and extensive spectrum of thalassemia in the neonates in Wuhan populations. The findings will be useful for genetic counseling and prenatal diagnosis of thalassemia in the Wuhan region.