The distribution and spectrum of thalassemia variants in GUIYANG region, southern China
Abstract Thalassemia is one of southern China’s most common inherited disorders. This retrospective study analyzed the results of thalassemia gene testing conducted on 20,478 individuals from January 1, 2019, to April 31, 2024 in the First Affiliated Hospital of Guizhou University of Traditional Chi...
Saved in:
| Main Authors: | , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-02-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03569-8 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1823861644315328512 |
|---|---|
| author | Xuanyin Zhao Zhiyu You Yunyan Deng Yi Zhou Dongyang Deng Jian Quan Fang Chen Zhimei Yan Ya Qi Leilei Chen Fang Xiang Weixian Zheng Ruyi Zhang |
| author_facet | Xuanyin Zhao Zhiyu You Yunyan Deng Yi Zhou Dongyang Deng Jian Quan Fang Chen Zhimei Yan Ya Qi Leilei Chen Fang Xiang Weixian Zheng Ruyi Zhang |
| author_sort | Xuanyin Zhao |
| collection | DOAJ |
| description | Abstract Thalassemia is one of southern China’s most common inherited disorders. This retrospective study analyzed the results of thalassemia gene testing conducted on 20,478 individuals from January 1, 2019, to April 31, 2024 in the First Affiliated Hospital of Guizhou University of Traditional Chinese Medicine. The cohort consisted of 19,733 females and 745 males, with 1401 individuals testing positive for thalassemia. Among the positive cases, 942 had α thalassemia, 431 had β thalassemia, and 25 had variants in both α and β thalassemia genes. Interestingly, a subgroup of individuals with thalassemia variants not previously documented in medical literature was identified. The study highlighted the prevalence of thalassemia among different ethnic groups, with individuals of Han ethnicity being the most affected. Geographical analysis revealed a concentration of cases in Guizhou Province, particularly in Guiyang city, Bijie, and Qiannan Prefecture. These findings provide valuable insights into the epidemiology of thalassemia in the region and the distribution of affected individuals. |
| format | Article |
| id | doaj-art-6b0da724c08d444dadd3b9e8cf930a2e |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-6b0da724c08d444dadd3b9e8cf930a2e2025-02-09T12:54:06ZengBMCOrphanet Journal of Rare Diseases1750-11722025-02-012011910.1186/s13023-025-03569-8The distribution and spectrum of thalassemia variants in GUIYANG region, southern ChinaXuanyin Zhao0Zhiyu You1Yunyan Deng2Yi Zhou3Dongyang Deng4Jian Quan5Fang Chen6Zhimei Yan7Ya Qi8Leilei Chen9Fang Xiang10Weixian Zheng11Ruyi Zhang12Department of Obstetrics, First Affiliated Hospital of Guizhou University of Traditional Chinese MedicineDepartment of Clinical Laboratory, First Affiliated Hospital of Guizhou University of Traditional Chinese MedicineDepartment of Obstetrics, First Affiliated Hospital of Guizhou University of Traditional Chinese MedicineDepartment of Obstetrics, First Affiliated Hospital of Guizhou University of Traditional Chinese MedicineDepartment of Obstetrics, First Affiliated Hospital of Guizhou University of Traditional Chinese MedicineDepartment of Clinical Laboratory, Anshun Hospital of Guizhou Aviation Industry GroupDepartment of Obstetrics, First Affiliated Hospital of Guizhou University of Traditional Chinese MedicineDepartment of Obstetrics, First Affiliated Hospital of Guizhou University of Traditional Chinese MedicineDepartment of Obstetrics, First Affiliated Hospital of Guizhou University of Traditional Chinese MedicineGraduate School, Guizhou University of Traditional Chinese MedicineDepartment of Obstetrics, First Affiliated Hospital of Guizhou University of Traditional Chinese MedicineDepartment of Obstetrics, First Affiliated Hospital of Guizhou University of Traditional Chinese MedicineDepartment of Obstetrics, First Affiliated Hospital of Guizhou University of Traditional Chinese MedicineAbstract Thalassemia is one of southern China’s most common inherited disorders. This retrospective study analyzed the results of thalassemia gene testing conducted on 20,478 individuals from January 1, 2019, to April 31, 2024 in the First Affiliated Hospital of Guizhou University of Traditional Chinese Medicine. The cohort consisted of 19,733 females and 745 males, with 1401 individuals testing positive for thalassemia. Among the positive cases, 942 had α thalassemia, 431 had β thalassemia, and 25 had variants in both α and β thalassemia genes. Interestingly, a subgroup of individuals with thalassemia variants not previously documented in medical literature was identified. The study highlighted the prevalence of thalassemia among different ethnic groups, with individuals of Han ethnicity being the most affected. Geographical analysis revealed a concentration of cases in Guizhou Province, particularly in Guiyang city, Bijie, and Qiannan Prefecture. These findings provide valuable insights into the epidemiology of thalassemia in the region and the distribution of affected individuals.https://doi.org/10.1186/s13023-025-03569-8ThalassemiaGuizhou ProvinceMolecular characterization |
| spellingShingle | Xuanyin Zhao Zhiyu You Yunyan Deng Yi Zhou Dongyang Deng Jian Quan Fang Chen Zhimei Yan Ya Qi Leilei Chen Fang Xiang Weixian Zheng Ruyi Zhang The distribution and spectrum of thalassemia variants in GUIYANG region, southern China Orphanet Journal of Rare Diseases Thalassemia Guizhou Province Molecular characterization |
| title | The distribution and spectrum of thalassemia variants in GUIYANG region, southern China |
| title_full | The distribution and spectrum of thalassemia variants in GUIYANG region, southern China |
| title_fullStr | The distribution and spectrum of thalassemia variants in GUIYANG region, southern China |
| title_full_unstemmed | The distribution and spectrum of thalassemia variants in GUIYANG region, southern China |
| title_short | The distribution and spectrum of thalassemia variants in GUIYANG region, southern China |
| title_sort | distribution and spectrum of thalassemia variants in guiyang region southern china |
| topic | Thalassemia Guizhou Province Molecular characterization |
| url | https://doi.org/10.1186/s13023-025-03569-8 |
| work_keys_str_mv | AT xuanyinzhao thedistributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT zhiyuyou thedistributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT yunyandeng thedistributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT yizhou thedistributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT dongyangdeng thedistributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT jianquan thedistributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT fangchen thedistributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT zhimeiyan thedistributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT yaqi thedistributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT leileichen thedistributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT fangxiang thedistributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT weixianzheng thedistributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT ruyizhang thedistributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT xuanyinzhao distributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT zhiyuyou distributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT yunyandeng distributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT yizhou distributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT dongyangdeng distributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT jianquan distributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT fangchen distributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT zhimeiyan distributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT yaqi distributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT leileichen distributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT fangxiang distributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT weixianzheng distributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina AT ruyizhang distributionandspectrumofthalassemiavariantsinguiyangregionsouthernchina |