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地中海贫血筛查的常见方法学对比
地中海贫血筛查的常见方法学对比
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【公司研究】凯普生物-核酸分子诊断龙头地位凸显强大产品群推动公司快速崛起-20200925(25页).pdf
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图5.东南亚国家和华南地区地中海贫血的流行病学特征
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行业数据
2025-06-16
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图3.α地中海贫血分类
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2025-06-16
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图6.地中海贫血市场规模快速增长
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市场规模
2025-06-16
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图20.β-地中海贫血的病理生理及临床表现
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行业数据
2025-04-25
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2018-1H24华大基因当年地中海贫血基因检测量及同比增
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行业数据
2025-04-24
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我国南方地区人群地中海贫血基因携带率(%)
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地中海贫血常见检测方法包括血常规检测、血红蛋白电泳法、胎儿超声、分子诊断等。其中,传统筛查方法血常规检查及血红蛋白电泳具有假阳性率高、漏筛率高等缺点,而胎儿超声法存在无法筛查出重型β地中海贫血和中间型地中海贫血胎儿等缺点,这三种方法均为地中海贫血的初步筛查方法,最后确诊需依赖高特异性、高灵敏度的分子诊断法。根据地中海贫血筛查指南,孕前夫妇双方应接受血常规检查,呈阳性后进行血红蛋白电泳复筛,再度阳性后进行地中海贫血基因诊断,若双方为不同型携带者或仅一方携带地中海贫血基因,则可正常妊娠,否则需根据孕周的阶段接受对应的介入性产前诊断,以取得胎儿 DNA进行分子检测,得出最终确诊结果。
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【公司研究】凯普生物-核酸分子诊断龙头地位凸显强大产品群推动公司快速崛起-20200925(25页).pdf
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