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Updated: Jun 11, 2025

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy

在Hb A1c毛细管电泳中,对临床显著的血红蛋白变异Hb E,Hb S,Hb D的推定鉴定

Ankitha K Puthiyaveettil¹, Glen S Vaz², Sujay R Prasad³

¹R&D, Neuberg Anand Academy of Laboratory Medicine Pvt Ltd, Bengaluru, India.

The journal of applied laboratory medicine

|October 4, 2024

概括

这项研究表明,毛细管电泳x轴值可以在HbA1c测试中识别常见的血红蛋白变体 (HbE,S,D),改善糖尿病管理. 当血红蛋白变异干扰结果时,这种方法有助于准确诊断.

科学领域:

临床化学临床化学
分析生物化学分析生物化学
糖尿病诊断诊断糖尿病诊断

背景情况:

糖化血红素 (HbA1c) 检测对于糖尿病的诊断和管理至关重要.
血红蛋白 (Hb) 变异可能会干扰HbA1c量化,导致不可靠的结果.
准确识别Hb变体对于精确的患者护理至关重要.

研究的目的:

评估从HbA1c毛细管电泳 (CE) 获得的x轴值的实用性,以识别临床显著的Hb变异.
为了将HbA1c CE x轴值和变异百分比与从Hb电泳中获得的值相关联.
使用质谱法 (MS) 确认检测到的Hb变异的身份.

主要方法:

分析了60个患者样本,其中HbA1c CE (x轴190-240) 的变异峰值.
将Hb变异迁移位置 (x轴) 和来自HbA1c CE的百分比与Hb电泳相比较.
质谱法 (MS) 用于最终的变种识别.

主要成果:

Hb E (x轴225-227),Hb S (x轴210-214) 和Hb D-Punjab (x轴200-201) 分别在20,20和18个样本中被发现.
印度的HbQ (α变种) 在使用MS的x轴值为194时被确定.
与Hb电泳相比,HbA1c CE显示了x轴值的负转移 (-1至-13单位) 和较低的变异百分比 (-0.2%至 -8.7%).

结论:

在 HbA1c CE 中的 X 轴值对于识别常见和临床相关的 Hb 变异具有意义.
这种方法为直接从HbA1c测试中假定识别Hb变异提供了有价值的工具.
利用x轴数据可以提高Hb变异患者糖尿病监测的准确性.

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