Genotypic spectrum of α-thalassemia and β-thalassemia in newborns of the Li minority in Hainan province, China

PURPOSE: To explore the genotypes and allele frequencies of α, β and α+β thalassemias in Li minorities, which resided in Hainan Province of China for a long time. METHODS: In the present study, 1,438 newborns of the Li minority were collected from January 2020 to April 2021. The genotypes of thalassemia were detected by fluorescence PCR and verified by flow-through hybridization PCR analyses. Rare genotypes were detected by restriction fragment length polymorphism electrophoresis and Sanger DNA sequencing. RESULTS: Among 1,438 participants, 1,024 (71.2%) were diagnosed with any kind of thalassemia. Among all thalassemia carriers, 902 (88.09%) subjects were diagnosed with α-thalassemia, and 18 subtypes of α-thalassemia were detected, with the top three genotypes being −α(4.2)/αα (25.39%), −α(3.7)/αα (22.62%) and α(WS)α/αα (16.96%). Thirty-two (3.13%) patients were β-thalassemia carriers, and 6 types of β-thalassemia genotypes were detected. The top two genotypes were β(CD41–42)/β(N) (46.88%) and β(−28)/β(N) (18.75%). Additionally, 90 (8.79%) cases were α + β-thalassemia, and the top two genotypes were −α(3.7)/αα, β(CD41–42)/β(N) (30.00%) and −α(4.2)/αα, β(CD41–42)/β(N) (26.67%). Furthermore, two genotypes (−α(4.2)/HKαα and β(CD76 GCT > CCT)/β(N)) were first identified in Hainan Province(,) and β(CD76 GCT > CCT)/β(N) was first identified in China. CONCLUSION: Newborns of Li have a higher prevalence of thalassemia for a long period, and further education on the impact of thalassemia, follow-up studies of the clinical manifestation and treatment and proper intervention methods should be designed to reduce the burden of thalassemia and enhance the quality of life in Li newborns.