背景:糖化血红蛋白(Hb)(HbA1c)是用于诊断和监测糖尿病治疗的指标。许多因素会影响HbA1c的检测。这些因素中最重要的一个是Hb变体。这里,我们报告了一种罕见的Hb变异,并评估了其对HbA1c的影响。
方法:一名35岁的男子在常规检查期间用VariantIITurbo2.0Hb检测系统测量HbA1c后被怀疑携带Hb变体。随后,我们使用ArkrayHA-8160和ARCHITECTc4000系统重新分析HbA1c。最后,用毛细管电泳原理操作的Capillary2FP分析仪检测Hb变异体.我们还使用基因测序来研究突变位点。用变体IITurbo2.0系统检测的HbA1c值为52.7%。然而,ArkrayHA-8160系统未显示结果,而ARCHITECTc16000系统显示的结果为5.4%。Capillary2FP分析仪没有发现任何异常的Hb区。然而,基因测序确定Hbβ2链[CD2(CAC>TAC)中存在突变,他的>Tyr,HBB:c.7C>T];基因型为福冈Hb。
结论:Hb变异可导致HbA1c异常结果。对于Hb变异的患者,应采用不同的方法检测HbA1c。
BACKGROUND: Glycated hemoglobin (Hb) (HbA1c) is an indicator that is used to diagnose and monitor the treatment of diabetes. Many factors can affect the detection of HbA1c. One of the most important of these factors is the Hb variant. Here, we report a rare Hb variant and evaluate its effect on HbA1c.
METHODS: A 35-year-old man was suspected of harboring an Hb variant following the measurement of HbA1c with the Variant II Turbo 2.0 Hb detection system during a routine examination. Subsequently, we used the Arkray HA-8160 and ARCHITECT c4000 system to reanalyze HbA1c. Finally, the Hb variant was detected with a Capillary2FP analyzer that operates on the principle of capillary electrophoresis. We also used gene sequencing to investigate the mutation site. The value of HbA1c detected with the Variant II Turbo 2.0 system was 52.7%. However, the Arkray HA-8160 system did not display a result while the ARCHITECT c16000 system showed a result of 5.4%. The Capillary2FP analyzer did not reveal any abnormal Hb zones. However, gene sequencing identified the presence of a mutation in the Hb β2 chain [CD2(CAC>TAC), His>Tyr, HBB: c.7C>T]; the genotype was Hb Fukuoka.
CONCLUSIONS: Hb variants could cause abnormal HbA1c results. For patients with Hb variants, different methods should be used to detect HbA1c.