偶然发现罕见的血红蛋白:西班牙东北部的巴里血红蛋白
Raquel Lahoz Alonso1, Naiara Romero Sánchez1, Ruth González Sánchez1
1Servicio de Análisis Clínicos, Hospital Ernest Lluch, Zaragoza, Spain.
Advances in laboratory medicine
|December 11, 2023
概括
使用HPLC的常规糖化血红蛋白 (HbA1c) 测试可以偶然检测结构性血红蛋白病变. 这一案例突显了异常HbA1c分析如何导致血红蛋白巴里的鉴定.
科学领域:
- 临床化学 临床化学
- 血液学 血液学 血液学
- 遗传学 是一个遗传学.
背景情况:
- 阴阳交换高性能液体染色学 (HPLC) 是确定糖化血红蛋白 (HbA1c) 的标准方法.
- HPLC也用于查结构性血红蛋白病变.
- 常规的HbA1c测试有时可以揭示暗示血红蛋白病变的偶然发现.
研究的目的:
- 为了证明在例行HbA1c测试中偶然检测出血红蛋白病变.
- 为了说明识别意外血红蛋白变异的诊断过程.
主要方法:
- 使用HPLC (ADAMSTM A1c HA-8180T) 的初始HbA1c分析显示出异常的血红蛋白A2 (HbA2) 水平.
- 进一步的研究涉及电泳 (Hydrasys) 和HPLC (变种II).
- 使用桑格测序进行了基因分析,以确定确诊.
主要成果:
- 一名患者呈现出低HbA2 (1.3%) 和HPLC检测到的显著变异 (24.9%).
- 传统的方法不足以进行鉴定.
- 桑格测序确定了HbA基因中的致病变体c.138C>G,证实了巴里血红蛋白.
结论:
- 在常规HbA1c分析中可以实现结构性血红蛋白病的初始查.
- 在HbA1c测试期间的偶然发现需要进一步调查.
- 确认和诊断血红蛋白病症需要专门的技术超出初始查.
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