To investigate the blood cell parameters and gene detection results of thalassemia patients in Qiongzhong County of Hainan Province, and to provide the basis for effectively preventing and monitoring thalassemia in this region.

Blood routine, hemoglobin electrophoresis and brittleness test were performed in the peripheral blood samples from 3392 middle school students in Qiongzhong County of Hainan province. Positive samples were used to detect genotype, mutation frequency and blood cell parameters.

Among the 3392 students, 1439 were positive for initial screening and 1049 were positive for gene identification, of which 784 cases were simple alpha thalassemia genotype (74.7%), 143 cases were simple beta alpha thalassemia genotype (13.6%), and 122 cases were alpha and beta complex genotype (11.6%). The alpha thalassemia genotype is mainly αα/-α^3.7(33.4%) and αα/-α^4.2(31.3%). β^CD41-42/β^N(76.2%) mutation is most common in beta thalassemia genotype. There were statistically significant differences among the healthy control, alpha thalassemia and beta thalassemia in the detection indexes excluding HbA and female hemoglobin (P<0.05). The combination of routine blood test, hemoglobin component analysis and primary screening had the best performance.

The carrying rate and genotype distribution of alpha and beta thalassemia in Qiongzhong County are in accordance with the basic characteristics of Hainan Province. The blood cell parameters, genetic association and optimal primary screening program of each type of thalassemia are able to offer the foundation for preventing and controlling thalassemia in this area.

Thalassemia; Genotype; Mutation frequency