AUTHOR=Zhong Kun , Shi Haijie , Wu Wenli , Xu Haizhu , Wang Hui , Zhao Zhendong 

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

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 11 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1139387

DOI=10.3389/fped.2023.1139387

ISSN=2296-2360

ABSTRACT=Purpose: To explore the genotypes and allele frequencies of α, β and α+β thalassemia in Li minorities, which resided in the Hainan Province of China for a long time. 
Methods: In the present study, 1438 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 1438 participants, 1024 (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 -α4.2/αα (25.39%), -α3.7/αα (22.62%) and αWSα/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 βCD41-42/βN (46.88%) and β-28/βN (18.75%). Additionally, 90 (8.79%) cases were α + β-thalassemia, and the top two genotypes were -α3.7/αα, βCD41-42/βN (30.00%) and -α4.2/αα, βCD41-42/βN (26.67%). Furthermore, two genotypes (-α4.2/HKααand βCD76 GCT>CCT/βN) were first identified in Hainan Province, and βCD76 GCT>CCT/βN 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.