基因型
地中海贫血
医学
产前诊断
突变
儿科
遗传学
回顾性队列研究
遗传诊断
β地中海贫血
流行病学
中国南方
血红蛋白病
聚合酶链反应
复合杂合度
溶血性贫血
内科学
贫血
作者
Guowei Run,Yan Jiang,Jing-Rui Xu,Caode Jiang,Lihua Zeng,Bin Yu,Jingxiu Bi,Cuijin Tan,Yulan Huang,Linhua Ji
出处
期刊:Hemoglobin
[Taylor & Francis]
日期:2025-10-28
卷期号:49 (6): 371-376
标识
DOI:10.1080/03630269.2025.2577703
摘要
(18%). The mutation profile in Huadu District aligns with the Southern Chinese thalassemia spectrum but exhibits regional specificity, mirroring the overall epidemiological pattern of Southern China while demonstrating distinct regional mutation clusters. Greater emphasis should be placed on thalassemia screening, genetic counseling, and prenatal diagnosis to improve birth outcomes.
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