Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study
Background Thalassemia, a prevalent monogenic inherited disorder, represents a significant public health concern in southern China. This comprehensive study retrospectively analysed prenatal diagnostic data for thalassemia over an 11-year period in Guangdong Province, a high-prevalence region in sou...
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Taylor & Francis Group
2025-12-01
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| Series: | Annals of Medicine |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/07853890.2025.2548970 |
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| author | Danqing Qin Wei He Jicheng Wang Juan Zhu Cuize Yao Xiuqin Bao Jie Liang Yixia Wang Kailing Liang Mingyong Luo Li Du Jing Wu |
| author_facet | Danqing Qin Wei He Jicheng Wang Juan Zhu Cuize Yao Xiuqin Bao Jie Liang Yixia Wang Kailing Liang Mingyong Luo Li Du Jing Wu |
| author_sort | Danqing Qin |
| collection | DOAJ |
| description | Background Thalassemia, a prevalent monogenic inherited disorder, represents a significant public health concern in southern China. This comprehensive study retrospectively analysed prenatal diagnostic data for thalassemia over an 11-year period in Guangdong Province, a high-prevalence region in southern China.Methods Prenatal diagnosis (PND) of thalassemia was performed on 22,127 foetuses from at-risk pregnancies, following standardized protocols for invasive sampling, foetal sample collection and laboratory processing. Thalassemia mutations were identified using PCR-based molecular techniques.Results The analysis revealed that 16,812 cases (75.98%) were diagnosed with thalassemia, including 12,636 cases (57.11%) identified as α-thalassemia, 3961 cases (17.90%) as β-thalassemia and 215 cases (0.97%) as co-inheritance of α- and β-thalassemia. Among these, 5769 cases (26.08%) were diagnosed with intermedia or severe thalassemia genotypes, of which 2593 underwent pregnancy termination. Additionally, our study detected 275 cases of rare thalassemia variants. The retrospective analysis encompassed critical aspects including the timing of PND, genotype spectrum and rare variant identification, complemented by a synthesis of clinical practice insights.Conclusions This large-scale study provides substantial epidemiological data and clinical insights that significantly contribute to the enhancement of thalassemia prevention and control strategies in Guangdong Province. |
| format | Article |
| id | doaj-art-2266aa741ccf4a44ad85b81a0f7aabf3 |
| institution | Kabale University |
| issn | 0785-3890 1365-2060 |
| language | English |
| publishDate | 2025-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Annals of Medicine |
| spelling | doaj-art-2266aa741ccf4a44ad85b81a0f7aabf32025-08-22T08:29:07ZengTaylor & Francis GroupAnnals of Medicine0785-38901365-20602025-12-0157110.1080/07853890.2025.2548970Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective studyDanqing Qin0Wei He1Jicheng Wang2Juan Zhu3Cuize Yao4Xiuqin Bao5Jie Liang6Yixia Wang7Kailing Liang8Mingyong Luo9Li Du10Jing Wu11Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, ChinaMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, ChinaMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, ChinaMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, ChinaMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, ChinaMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, ChinaMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, ChinaMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, ChinaMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, ChinaMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, ChinaMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, ChinaMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, ChinaBackground Thalassemia, a prevalent monogenic inherited disorder, represents a significant public health concern in southern China. This comprehensive study retrospectively analysed prenatal diagnostic data for thalassemia over an 11-year period in Guangdong Province, a high-prevalence region in southern China.Methods Prenatal diagnosis (PND) of thalassemia was performed on 22,127 foetuses from at-risk pregnancies, following standardized protocols for invasive sampling, foetal sample collection and laboratory processing. Thalassemia mutations were identified using PCR-based molecular techniques.Results The analysis revealed that 16,812 cases (75.98%) were diagnosed with thalassemia, including 12,636 cases (57.11%) identified as α-thalassemia, 3961 cases (17.90%) as β-thalassemia and 215 cases (0.97%) as co-inheritance of α- and β-thalassemia. Among these, 5769 cases (26.08%) were diagnosed with intermedia or severe thalassemia genotypes, of which 2593 underwent pregnancy termination. Additionally, our study detected 275 cases of rare thalassemia variants. The retrospective analysis encompassed critical aspects including the timing of PND, genotype spectrum and rare variant identification, complemented by a synthesis of clinical practice insights.Conclusions This large-scale study provides substantial epidemiological data and clinical insights that significantly contribute to the enhancement of thalassemia prevention and control strategies in Guangdong Province.https://www.tandfonline.com/doi/10.1080/07853890.2025.2548970Thalassemiaprenatal diagnosis (PND)genetic analysisrare variantsouthern China |
| spellingShingle | Danqing Qin Wei He Jicheng Wang Juan Zhu Cuize Yao Xiuqin Bao Jie Liang Yixia Wang Kailing Liang Mingyong Luo Li Du Jing Wu Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study Annals of Medicine Thalassemia prenatal diagnosis (PND) genetic analysis rare variant southern China |
| title | Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study |
| title_full | Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study |
| title_fullStr | Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study |
| title_full_unstemmed | Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study |
| title_short | Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study |
| title_sort | prevention and control of thalassemia in guangdong province southern china insights from an 11 year retrospective study |
| topic | Thalassemia prenatal diagnosis (PND) genetic analysis rare variant southern China |
| url | https://www.tandfonline.com/doi/10.1080/07853890.2025.2548970 |
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