Abstract
This study investigated prenatal diagnosis of α-thalassemia and β-thalassemia in 3049 families in 18 regions of Hainan Province. Molecular diagnosis was performed in 3049 couples with thalassemia in Hainan Province. Genomic DNA was extracted from peripheral blood of the couples and villus, amniotic fluid, or cord blood of fetuses. DNA-based diagnosis was performed using polymerase chain reaction. The most commonly detected mutation for α-thalassemia was− SEA/αα (31.53%), followed by − α4.2/αα (11.15%) and − α3.7/αα (11.02%). The most common mutation for β-thalassemia was CD41/42 (30.27%), followed by − 28 (2.56%). Prevalence was highest in the coastal regions and lowest in the Wenchang, Lingao, and Ding’an regions. We also found that the most common gene mutations in Han people and other minority groups were not homogeneous. Prenatal diagnosis showed 556 normal fetuses, 116 with α-thalassemia hydrops, and 134 with β-thalassemia major. Our findings provide important information for clinical genetic counseling regarding prenatal diagnosis for thalassemia major in Hainan Province.
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Acknowledgements
We are thankful to Jun Wang from Texas Heart Institute for writing instruction.
Funding
This work was supported by Hainan Provincial Natural Science Foundation of China (No.2019CXTD408), Major Science and Technology Program of Hainan Province (No. ZDKJ2017007), National Natural Science Foundation of China (81460034, 81660433, 81960283, 82072880), Key Research and Development projects of Hainan Province (ZDYF2020117), Tropical Translational Medicine Education Key Laboratory Open Project (2020TTM006, 2020TTM008).
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Zhen Wang, Wenye Sun, Qi Li, and Yanlin Ma conducted the laboratory work, data analysis, and manuscript draft writing. Huaye Chen, Yongfang Zhang, Fei Wang, Yanhua Huang, Hongjian Chen, Yao Zhou, and Xixi Zhou assisted in clinical information collection, interpretation and to improve the manuscript. Qi Li and Yanlin Ma designed the study plan and supervised the overall project. All authors read, critically reviewed the draft and approved the final version.
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Wang, Z., Sun, W., Chen, H. et al. Prevalence and molecular spectrum of α- and β-globin gene mutations in Hainan, China. Int J Hematol 114, 307–318 (2021). https://doi.org/10.1007/s12185-021-03173-z
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DOI: https://doi.org/10.1007/s12185-021-03173-z