Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China
Introduction: About 2% of the population in the world are carriers of the thalassemia gene. Thalassemia is highly prevalent in Southern China, and traditional clinical testing methods would cause missed diagnosis of partial static thalassemia. Here, we reviewed and summarized a set of simple and cli...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2022-08-01
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| Series: | Clinical and Applied Thrombosis/Hemostasis |
| Online Access: | https://doi.org/10.1177/10760296221119807 |
| _version_ | 1811308698153254912 |
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| author | Jiajia Xian MD Yanchao Wang MD Jianchun He MD Shaoying Li MD Wenzhi He MD Xiaoyan Ma MD Qing Li PhD |
| author_facet | Jiajia Xian MD Yanchao Wang MD Jianchun He MD Shaoying Li MD Wenzhi He MD Xiaoyan Ma MD Qing Li PhD |
| author_sort | Jiajia Xian MD |
| collection | DOAJ |
| description | Introduction: About 2% of the population in the world are carriers of the thalassemia gene. Thalassemia is highly prevalent in Southern China, and traditional clinical testing methods would cause missed diagnosis of partial static thalassemia. Here, we reviewed and summarized a set of simple and clinically feasible thalassemia detection protocols adopted by the Prenatal Diagnosis and Reproductive Center of our hospital. Methods: From January 1, 2015, to December 31, 2020, 31 512 peripheral blood samples and 3828 prenatal samples were collected in our study. All the peripheral blood samples were performed through thalassemia screening by routine blood tests and hemoglobin electrophoresis and gene detection. The prenatal diagnosis would be implemented for the fetus if the parents were carriers of the same type of thalassemia. Results: A total of 6137 (19.48%) cases were diagnosed as thalassemia, in which 4749 (15.07%) were α-thalassemia, 1196 (3.80%) were β-thalassemia and 192 (0.61%) were co-inheritance of α- and β-thalassemia. For prenatal samples, 3160 (82.55%) cases were diagnosed as thalassemia, in which 2021 (52.80%) were α-thalassemia, 997 (26.05%) were β-thalassemia and 142 (3.71%) were co-inheritance of α- and β-thalassemia. In addition, we also found five novel mutations, including NC_000016.9:g.223681-227492del3812; HBA1: c.301-31_301-24delCTCGGCCCinsG; HBA2: c.95+7C>T for α-thalassemia and HBB: c.263_276delCACTGAGTGAGCTG; HBB: c.315+143G>A for β-thalassemia. Conclusion: The present study updates the epidemiological characteristics and mutation spectrum of thalassemia in Southern China and demonstrated five novel mutations. Our research provides a reference for clinical diagnosis and treatment, prenatal diagnosis, or reproductive genetic counseling for patients with thalassemia in Guangdong. |
| first_indexed | 2024-04-13T09:27:53Z |
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| id | doaj.art-887e3d9b0482426b9875b1476f3b42bb |
| institution | Directory Open Access Journal |
| issn | 1938-2723 |
| language | English |
| last_indexed | 2024-04-13T09:27:53Z |
| publishDate | 2022-08-01 |
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| series | Clinical and Applied Thrombosis/Hemostasis |
| spelling | doaj.art-887e3d9b0482426b9875b1476f3b42bb2022-12-22T02:52:22ZengSAGE PublishingClinical and Applied Thrombosis/Hemostasis1938-27232022-08-012810.1177/10760296221119807Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern ChinaJiajia Xian MD0Yanchao Wang MD1Jianchun He MD2Shaoying Li MD3Wenzhi He MD4Xiaoyan Ma MD5Qing Li PhD6 Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Guangzhou, Guangdong, China Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Guangzhou, Guangdong, China Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Guangzhou, Guangdong, China Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Guangzhou, Guangdong, China Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Guangzhou, Guangdong, China Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Guangzhou, Guangdong, China Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Guangzhou, Guangdong, ChinaIntroduction: About 2% of the population in the world are carriers of the thalassemia gene. Thalassemia is highly prevalent in Southern China, and traditional clinical testing methods would cause missed diagnosis of partial static thalassemia. Here, we reviewed and summarized a set of simple and clinically feasible thalassemia detection protocols adopted by the Prenatal Diagnosis and Reproductive Center of our hospital. Methods: From January 1, 2015, to December 31, 2020, 31 512 peripheral blood samples and 3828 prenatal samples were collected in our study. All the peripheral blood samples were performed through thalassemia screening by routine blood tests and hemoglobin electrophoresis and gene detection. The prenatal diagnosis would be implemented for the fetus if the parents were carriers of the same type of thalassemia. Results: A total of 6137 (19.48%) cases were diagnosed as thalassemia, in which 4749 (15.07%) were α-thalassemia, 1196 (3.80%) were β-thalassemia and 192 (0.61%) were co-inheritance of α- and β-thalassemia. For prenatal samples, 3160 (82.55%) cases were diagnosed as thalassemia, in which 2021 (52.80%) were α-thalassemia, 997 (26.05%) were β-thalassemia and 142 (3.71%) were co-inheritance of α- and β-thalassemia. In addition, we also found five novel mutations, including NC_000016.9:g.223681-227492del3812; HBA1: c.301-31_301-24delCTCGGCCCinsG; HBA2: c.95+7C>T for α-thalassemia and HBB: c.263_276delCACTGAGTGAGCTG; HBB: c.315+143G>A for β-thalassemia. Conclusion: The present study updates the epidemiological characteristics and mutation spectrum of thalassemia in Southern China and demonstrated five novel mutations. Our research provides a reference for clinical diagnosis and treatment, prenatal diagnosis, or reproductive genetic counseling for patients with thalassemia in Guangdong.https://doi.org/10.1177/10760296221119807 |
| spellingShingle | Jiajia Xian MD Yanchao Wang MD Jianchun He MD Shaoying Li MD Wenzhi He MD Xiaoyan Ma MD Qing Li PhD Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China Clinical and Applied Thrombosis/Hemostasis |
| title | Molecular Epidemiology and Hematologic Characterization of Thalassemia
in Guangdong Province, Southern China |
| title_full | Molecular Epidemiology and Hematologic Characterization of Thalassemia
in Guangdong Province, Southern China |
| title_fullStr | Molecular Epidemiology and Hematologic Characterization of Thalassemia
in Guangdong Province, Southern China |
| title_full_unstemmed | Molecular Epidemiology and Hematologic Characterization of Thalassemia
in Guangdong Province, Southern China |
| title_short | Molecular Epidemiology and Hematologic Characterization of Thalassemia
in Guangdong Province, Southern China |
| title_sort | molecular epidemiology and hematologic characterization of thalassemia in guangdong province southern china |
| url | https://doi.org/10.1177/10760296221119807 |
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