Torrejón María Josefa, Ortíz-Cabrera N Valentina, M Nieto Jorge, González Fernández Fernando-Ataúlfo, Villegas Ana, Martínez Rafael, Ropero Paloma
Servicio de Análisis Clínicos, Hospital Clínico San Carlos, Madrid, Spain.
Servicio de Hematología, Hospital Clínico San Carlos, Madrid, Spain.
Clin Biochem. 2017 Jun;50(9):521-524. doi: 10.1016/j.clinbiochem.2017.04.014. Epub 2017 Apr 19.
In most routine laboratories in Spain, the commonly used method for evaluating HbA1c is ion-exchange high performance liquid chromatography (HPLC). The presence of a variant of Hb may interfere with the quantification of HbA1c.
Here, we report a novel haemoglobin variant, named Hb Moncloa, which was found during a routine health check at the Hospital Clínico San Carlos in Moncloa (Madrid), Spain.
Molecular characterization of β gene identified a novel transversion mutation [β80(EF4)Asn>Ser; HBB:c.242A>G].
When there is no correlation between clinical, glycemic status and glycated haemoglobin of the patient, the chromatogram of HbA1c should be carefully checked to detect the possible presence of variants that cause interference in their measurement.
在西班牙的大多数常规实验室中，评估糖化血红蛋白（HbA1c）的常用方法是离子交换高效液相色谱法（HPLC）。血红蛋白（Hb）变体的存在可能会干扰HbA1c的定量。
在此，我们报告一种新型血红蛋白变体，名为Hb蒙克洛阿，它是在西班牙马德里蒙克洛阿的圣卡洛斯临床医院的一次常规健康检查中发现的。
β基因的分子特征鉴定出一种新型颠换突变[β80(EF4)Asn>Ser；HBB:c.242A>G]。
当患者的临床、血糖状态与糖化血红蛋白之间不存在相关性时，应仔细检查HbA1c的色谱图，以检测可能存在的干扰其测量的变体。
