Clinical Laboratory Department, General Hospital of Tianjin Medical University, Tianjin, China.
Key Laboratory Experimental Teratology of the Ministry of Education, Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Cheeloo College of Medicine, Shandong University, Jinan, China.
Lab Med. 2023 May 2;54(3):308-316. doi: 10.1093/labmed/lmac121.
Hemoglobin A1c (HbA1c) can be used to evaluate blood glucose control. Its measurement will be affected by many factors, but Hb variation is the most critical factor. This study aimed to explore the types of variants found in routine work and their impact on test results.
Samples with abnormal HbA1c chromatograms found in routine testing were tested with high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE) and then further tested with polymerase chain reaction (PCR) and sequencing.
Five recessive heterozygous mutations were identified after PCR and sequencing. Hb Riccarton-II (a mutation in the HBA2 gene), Hb E, Hb G-Coushatta, Hb G-Taipei, and Hb North Manchester (a mutation in the HbB gene) were identified. All HbA1c values of these variants detected by HLC-723 G8 (HPLC method) were lower than those of Sebia Capillarys 2 FP (C2FP, CE method) with P < .0001.
Five Hb mutations were identified in our routine HbA1c test, and their HPLC detection values were significantly lower than those obtained with the CE method.
糖化血红蛋白（HbA1c）可用于评估血糖控制情况。其检测结果会受到许多因素的影响，但 Hb 变异是最关键的因素。本研究旨在探讨常规工作中发现的变异类型及其对检测结果的影响。
对常规检测中发现 HbA1c 色谱图异常的样本进行高效液相色谱（HPLC）和毛细管电泳（CE）检测，然后进一步进行聚合酶链反应（PCR）和测序检测。
经 PCR 和测序后共鉴定出 5 种隐性杂合突变，分别为 Hb Riccarton-II（HBA2 基因突变）、HbE、HbG-Coushatta、HbG-Taipei 和 Hb North Manchester（HbB 基因突变）。HLC-723G8（HPLC 方法）检测到的所有这些变异的 HbA1c 值均显著低于 Sebia Capillarys 2 FP（CE 方法），P 值均小于 0.0001。
在我们的常规 HbA1c 检测中发现了 5 种 Hb 突变，其 HPLC 检测值明显低于 CE 方法。
