[Genotype Analysis of Common and Rare Thalassemia in People of Reproductive Age in Huadu District, Guangzhou].
| Autor: | Ju AP; Department of Laboratory Medicine, Maternity and Child Health Hospital of Huadu District, Guangzhou 510800, Guangdong Province, China., Fu XT; Nanchang University Queen Mary School, Nanchang 330031, Jiangxi Province, China., Lin K; Department of Laboratory Medicine, Maternity and Child Health Hospital of Huadu District, Guangzhou 510800, Guangdong Province, China., Xu BQ; Department of Laboratory Medicine, Maternity and Child Health Hospital of Huadu District, Guangzhou 510800, Guangdong Province, China., Liu JZ; Department of Laboratory Medicine, Maternity and Child Health Hospital of Huadu District, Guangzhou 510800, Guangdong Province, China., Qin YL; Department of Laboratory Medicine, Maternity and Child Health Hospital of Huadu District, Guangzhou 510800, Guangdong Province, China., Li XC; Department of Laboratory Medicine, Maternity and Child Health Hospital of Huadu District, Guangzhou 510800, Guangdong Province, China. |
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| Jazyk: | čínština |
| Zdroj: | Zhongguo shi yan xue ye xue za zhi [Zhongguo Shi Yan Xue Ye Xue Za Zhi] 2024 Oct; Vol. 32 (5), pp. 1496-1502. |
| DOI: | 10.19746/j.cnki.issn.1009-2137.2024.05.030 |
| Abstrakt: | Objective: To analyze the genotypes distribution of common and rare thalassemia in people of reproductive age in Huadu district of Guangzhou, enhance the database of thalassemia. Methods: Peripheral blood samples were collected for genotype analysis in Maternity and Child Health Hospital of Huadu District from January 2016 to October 2022. Gap-PCR and Reverse dot blot hybridization were used to detect common thalassemia genotypes. DNA sequencing was performed in samples suspected of rare genotypes. Results: A total of 16 171 subjects were identified as thalassemia carriers, and the positive rate was 44.41% (16 171/36 412). The genotypes of 114 cases (0.31%) were rare. A total of 10 845 cases were identified as α-thalassemia carriers (29.78%), and -- SEA /αα was the most common genotype in those people, followed by -α 3.7 /αα and -α 4.2 /αα. A total of 4 531 subjects were identified as common β-thalassemia carriers (12.44%). The most common β-thalassemia mutation in the population was β 41-42. / β N. , followed by β 654 / β N. and β -28 / β N. . A total of 681 subjects were identified as αβ thalassemia carriers (1.87%), among them -- SEA /αα compounded with β CD41-42. / β N. was the most common genotype. A total of 48 cases were identified as rare α-thalassemia carriers, 14 types of mutations, in which Fusion gene/αα was the most common. A total of 52 cases were identified as rare β-thalassemia carriers, 11 types of mutation, in which β SEA-HPFH / β N. was the most common. Conclusion: The thalassemia genotypes in Huadu district are complex and diverse. We should attach great importance to the detection of rare thalassemia genotypes. |
| Databáze: | MEDLINE |
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