Genotypic spectrum of alpha-thalassemia and beta-thalassemia in newborns of the Li minority in Hainan province, China

PurposeTo explore the genotypes and allele frequencies of alpha, beta and alpha+beta thalassemias in Li minorities, which resided in Hainan Province of China for a long time.MethodsIn 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.ResultsAmong 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 alpha-thalassemia, and 18 subtypes of alpha-thalassemia were detected, with the top three genotypes being -alpha(4.2)/alpha alpha (25.39%), -alpha(3.7)/alpha alpha (22.62%) and alpha(WS)alpha/alpha alpha (16.96%). Thirty-two (3.13%) patients were beta-thalassemia carriers, and 6 types of beta-thalassemia genotypes were detected. The top two genotypes were beta(CD41-42)/beta(N) (46.88%) and beta(-28)/beta(N) (18.75%). Additionally, 90 (8.79%) cases were alpha + beta-thalassemia, and the top two genotypes were -alpha(3.7)/alpha alpha, beta(CD41-42)/beta(N) (30.00%) and -alpha(4.2)/alpha alpha, beta(CD41-42)/beta(N) (26.67%). Furthermore, two genotypes (-alpha(4.2)/HK alpha alpha and beta(CD76 GCT > CCT)/beta(N)) were first identified in Hainan Province(,) and beta(CD76 GCT > CCT)/beta(N) was first identified in China.ConclusionNewborns 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.