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两个变体的故事:第一个报告的血红蛋白Rush病例和血红蛋白S在复合异位中

Amanda Cristina Meneguetti Berti1, Bárbara Braga Vieira Marques1, Victoria Simões Bernardo1

  • 1UNESP - São Paulo State University, Institute of Biosciences, Humanities and Exact Sciences, Biosciences Postgraduate Program, São José do Rio Preto, SP, Brazil.

Clinical biochemistry
|November 13, 2025
PubMed
概括

本案例报告详细介绍了第一份记录的血红蛋白Rush和血红蛋白S的化合物异构性. 精确诊断罕见的血红蛋白病症需要将临床数据与先进的实验室和分子分析结合起来.

关键词:
血球蛋白病变 血球蛋白病变血液溶解性贫血症 血液溶解性贫血症高性能液体色谱学 高性能液体色谱学分子诊断技术 分子诊断技术.

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