Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.

Hui XI; Qin Liu; Dong Hua Xie; Xu Zhou; Wang Lan Tang; De Guo Tang; Chun Yan Zeng; Qiong Wang; Xing Hui Nie; Jin Ping Peng; Xiao Ya Gao; Hong Liang WU; Hao Qing Zhang; Li Qiu; Zong Hui Feng; Shu Yuan Wang; Shu Xiang Zhou; Jun HE; Shi Hao Zhou; Fa Qun Zhou; Jun Qing Zheng; Shun Yao Wang; Shi Ping Chen; Zhi Fen Zheng; Xiao Yuan MA; Jun Qun Fang; Chang Biao Liang; Hua Wang

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Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.

Author: Hui XI ¹ ; Qin LIU ¹ ; Dong Hua XIE ¹ ; Xu ZHOU ¹ ; Wang Lan TANG ¹ ; De Guo TANG ² ; Chun Yan ZENG ² ; Qiong WANG ³ ; Xing Hui NIE ⁴ ; Jin Ping PENG ⁵ ; Xiao Ya GAO ⁶ ; Hong Liang WU ⁷ ; Hao Qing ZHANG ⁸ ; Li QIU ⁹ ; Zong Hui FENG ¹⁰ ; Shu Yuan WANG ¹¹ ; Shu Xiang ZHOU ¹² ; Jun HE ¹³ ; Shi Hao ZHOU ¹³ ; Fa Qun ZHOU ¹⁴ ; Jun Qing ZHENG ¹⁵ ; Shun Yao WANG ¹⁶ ; Shi Ping CHEN ¹⁷ ; Zhi Fen ZHENG ¹⁸ ; Xiao Yuan MA ¹⁹ ; Jun Qun FANG ¹ ; Chang Biao LIANG ¹ ; Hua WANG ¹
Author Information

1. NHC Key Laboratory of Birth Defect for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha 410028, Hunan, China.
2. Yongzhou Hospital for Maternal and Child Health Care, Yongzhou 425000, Hunan, China.
3. Changde Hospital for Maternal and Child Health Care, Changde 415099, Hunan, China.
4. Hengyang Hospital for Maternal and Child Health Care, Hengyang 421009, Hunan, China.
5. Shaoyang Hospital for Maternal and Child Health Care, Shaoyang 422001, Hunan, China.
6. Yiyang Hospital for Maternal and Child Health Care, Yiyang 413099, Hunan, China.
7. Yueyang Hospital for Maternal and Child Health Care, Yueyang 414021, Hunan, China.
8. Center of Prenatal Diagnosis, Chenzhou No. 1 People's Hospital, Chenzhou 423099, Hunan, China.
9. Loudi Hospital for Maternal and Child Health Care, Loudi 417599, Hunan, China.
10. Huaihua Hospital for Maternal and Child Health Care, Huaihua 418099, Hunan, China.
11. Xiangtan Hospital for Maternal and Child Health Care, Xiangtan 411104, Hunan, China.
12. Zhuzhou Hospital for Maternal and Child Health Care, Zhuzhou 412008, Hunan, China.
13. Changsha Hospital for Maternal and Child Health Care, Changsha 410007, Hunan, China.
14. Xiangxi Tujia and Miao Autonomous Prefecture Hospital for Maternal and Child Health Care, Jishou 416000, Hunan, China.
15. Zhang Jiajie Centre for maternal and child health family planning services, Zhangjiajie 427299, Hunan, China.
16. BGI Genomics, BGI-Shenzhen, Shenzhen 518083, Guangdong, China.
17. Clinical Laboratory of BGI Health, BGI-Shenzhen, Shenzhen 518083, Guangdong, China.
18. BGI-Wuhan Clinical Laboratories, BGI-Shenzhen, Wuhan 430074, Hubei, China.
19. SEBIA Representative Office, Shanghai 200001, China.
Publication Type:Journal Article
Keywords: Abnormal hemoglobin variants; Carrier rate; Molecular spectrum; Thalassemia; α-globin triplication
MeSH: Humans; beta-Thalassemia/genetics*; alpha-Thalassemia/genetics*; Hemoglobinopathies/genetics*; China/epidemiology*; High-Throughput Nucleotide Sequencing
From: Biomedical and Environmental Sciences 2023;36(2):127-134
CountryChina
Language:English
Abstract: OBJECTIVE:This study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province.
METHODS:We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed.
RESULTS:The overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α ^3.7/αα (50.23%) and β ^IVS-II-654/β ^N (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively.
CONCLUSION:Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.