林英良,何伟雄,王春芳

地中海贫血是全球范围内高发的遗传性溶血性贫血疾病，其基因变异的复杂性与临床表现的异质性给疾病防控、遗传咨询及临床干预带来了严峻挑战。本文系统综述了地中海贫血实验室诊断策略的发展历程与现状。传统筛查方法，如血常规联合血红蛋白电泳，虽操作简便、成本低廉，但存在显著的精准度局限，尤其在轻型及无症状携带者中漏诊率较高，难以满足日益增长的精准医疗需求。随着分子生物学技术的飞速发展，基因检测已成为确诊的金标准，能够实现病因学层面的精准确诊。然而，单一检测方法各有优劣，临床实践中正逐步向整合性诊断模式演进，即结合传统筛查的广度与分子检测的深度，构建分层、高效的诊断路径。本文重点探讨了整合性分子检测的临床应用价值、面临的挑战（如成本、技术复杂性、数据解读及伦理问题）以及未来发展方向，旨在为优化地中海贫血的实验室诊断体系提供参考。

地中海贫血；实验室诊断；分子检测；基因测序；临床应用

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