错误的HbA1c值是由于一种罕见的血红蛋白J-Cubujuquiqui的罕见变体
Clinical laboratory
|October 16, 2023
概括
血红蛋白J-Cubujuqui是一种罕见的变体,可以使用高性能液体染色学错误地降低糖化血红蛋白 (HbA1c) 测量值. 这一发现强调了需要仔细解释HbA1c结果在这个变种的个体.
科学领域:
- 血液学 血液学 血液学
- 临床化学 临床化学
- 遗传学 遗传学 是一个
背景情况:
- 血红蛋白J-Cubujuqui是一种罕见的血红蛋白变体,文档有限.
- 以前的报道没有表明这种变体对糖化血红蛋白 (HbA1c) 测试有任何影响.
- 准确的HbA1c测量对于糖尿病管理至关重要.
研究的目的:
- 描述罕见的血红蛋白J-Cubujuqui变异的识别和特征.
- 为了研究血红蛋白J-Cubujuqui对糖化血红蛋白 (HbA1c) 测量的影响.
- 提高临床医生对HbA1c测试潜在干扰的认识.
主要方法:
- 新生儿查发现了一个异常的血红蛋白变体.
- 高性能液体色谱 (HPLC) 和毛细管电泳用于初始血红蛋白分析.
- 桑格测序证实了对该变种负责的基因突变.
主要成果:
- 血红蛋白J-Cubujuqui变异是从父亲遗传的,父亲通过HPLC (2.41%) 呈现出虚假的低HbA1c,但通过免疫测试 (5.11%) 呈现出正常结果.
- 桑格测序确定了HBA1基因 (c.424CA) 中的异构基因突变 (CGTAGT),导致氨基酸位置141 (α1 141(HC3) 的Arg→Ser的Arg→Ser替代.
- 这种变种被证实为Hb J-Cubujuqui.
结论:
- 这项研究提供了第一个证据,即血红蛋白J-Cubujuqui干扰HbA1c测量.
- 这种变体在HPLC分析时可能导致HbA1c值错误降低.
- 临床医生应对疑似或确诊的Hb J-Cubujuqui患者的糖化血红蛋白结果的准确性保持警.
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