1. Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China
- Author
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Qiong Su, Xiang-Mei Zhang, Cheng-Shuang Huang, Fan Yang, Hongmei Murong, Ping Zhu, Xi Luo, Jindong Chen, Yan Chen, Liu-Song Wu, Yuhang Yang, Xiaosong Zhong, Run-Mei Tian, Mei Tan, Libo Zheng, Yue Bai, Jing Xia, and Jian Sun
- Subjects
Male ,0301 basic medicine ,China ,Heterozygote ,congenital, hereditary, and neonatal diseases and abnormalities ,Pediatrics ,medicine.medical_specialty ,Genetic counseling ,Thalassemia ,Early detection ,030105 genetics & heredity ,Polymerase Chain Reaction ,Monogenic disease ,03 medical and health sciences ,alpha-Globins ,alpha-Thalassemia ,hemic and lymphatic diseases ,Genotype ,Prevalence ,Genetics ,medicine ,Humans ,Genetic Testing ,Genetics (clinical) ,Genetic testing ,medicine.diagnostic_test ,business.industry ,beta-Thalassemia ,Infant, Newborn ,High-Throughput Nucleotide Sequencing ,medicine.disease ,Carrier rate ,030104 developmental biology ,Clinical diagnosis ,Female ,business - Abstract
Thalassemia is a common monogenic disease in southwestern China, especially in Guizhou province. In this study, 18 309 neonates were examined for thalassemia. The thalassemia carrier rate was 12.90%, which is associated with geographical regions, with carrier frequencies significantly differing between regions (p < 0.0001). The carrier rates for α-thalassemia and β-thalassemia were 8.91% and 3.36%, respectively. There are 22 genotypes identified among 1632 α-thalassemia cases, and 18 genotypes detected among 615 β-thalassemia cases. The birthrates of individuals with intermediate thalassemia and β-thalassemia major were 0.153% and 0.055%, respectively. Methodologically, NGS-Gap-PCR is superior to traditional detection methods, with 65 more cases detected by NGS-Gap-PCR. Since thalassemia-rich genotypes were highly prevalent in this region, early detection of thalassemia carriers would be meaningful for genetic counseling and prevention/treatment of thalassemia. NGS-Gap-PCR provides a powerful tool for neonate genetic testing and clinical diagnosis of thalassemia, especially in high-prevalence regions.
- Published
- 2021
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