| 摘要: |
| ［摘要］ 该文报道了β-珠蛋白基因新发突变导致输血依赖型β地中海贫血1例。 |
| 关键词: β-珠蛋白基因 输血依赖型β地中海贫血 突变 遗传变异 |
| DOI：10.3969/j.issn.1674-3806.2026.08.17 |
| 分类号:R 556 |
| 基金项目: |
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| A case of transfusion-dependent beta-thalassemia caused by a de novo mutation in the beta-globin gene |
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Wu Xin1, Qin Ting1, Li Youqiong1, Lu Xiaomin1, Dai Yan2, Chen Haining3
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1.Center for Medical Genetics and Prenatal Diagnosis, the People′s Hospital of Guangxi Zhuang Autonomous Region(Guangxi Academy of Medical Sciences), Nanning 530021, China; 2.Department of Pediatrics, the People′s Hospital of Guangxi Zhuang Autonomous Region(Guangxi Academy of Medical Sciences), Nanning 530021, China; 3.Department of Ultrasound Medicine, the People′s Hospital of Guangxi Zhuang Autonomous Region(Guangxi Academy of Medical Sciences), Nanning 530021, China
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| Abstract: |
| ［Abstract］ This paper reports a case of transfusion-dependent beta-thalassemia caused by a de novo mutation in the beta-globin gene. |
| Key words: beta-globin gene transfusion-dependent beta-thalassemia mutation genetic variation |
