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

Kun Zhong; Haijie Shi; Wenli Wu; Haizhu Xu; Hui Wang; Zhendong Zhao

doi:10.3389/fped.2023.1139387

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

Front Pediatr. 2023 Mar 20:11:1139387. doi: 10.3389/fped.2023.1139387. eCollection 2023.

Authors

Kun Zhong¹, Haijie Shi², Wenli Wu³, Haizhu Xu³, Hui Wang⁴, Zhendong Zhao³

Affiliations

¹ National Center for Clinical Laboratories, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology, Beijing, China.
² Department of Gastroenterology, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, Haikou, China.
³ Hainan Women and Children's Medical Center, Haikou, China.
⁴ Department of Maternal and Child Health, School of Public Health, Peking University, Beijing, China.

Abstract

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^WSα/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.

Keywords: Hainan provice; Li minority; genotypes; newborns; thalassemia.

Grants and funding

The authors disclosed receipt of the following financial support for the research, authorship and publication of this article: Natural Science Foundation of Hainan province (820MS150), Hainan Health Industry Scientific Research Project (21A200147), Hainan Province Clinical Medical Center (QWYH202175), and the Major Scientific and Technological Projects of Hainan Province (No. ZDKJ2017007).