Okamoto Takuya, Shima Hisato, Noma Yoshihiko, Komatsu Machiko, Azuma Hiroyuki, Miya Keiko, Tashiro Manabu, Inoue Tomoko, Masaki Chiaki, Tada Hiroaki, Takamatsu Norimichi, Minakuchi Jun
Department of Laboratory, Kawashima Hospital, 1-39 Kitasakoichiban-cho, Tokushima, Tokushima 770-0011 Japan.
Department of Kidney Disease, Kawashima Hospital, 1-39 Kitasakoichiban-cho, Tokushima, Tokushima 770-0011 Japan.
Diabetol Int. 2020 Jul 12;12(2):229-233. doi: 10.1007/s13340-020-00456-4. eCollection 2021 Apr.
Glycated hemoglobin (HbA1c) is an important indicator of glycemic control in patients with diabetes. High-performance liquid chromatography (HPLC) is the most commonly used method for measuring HbA1c levels; as HPLC measures all hemoglobin types, the values can be influenced by hemoglobin variants. Moreover, as HPLC-HbA1c levels are low in some diseases, including hemolytic anemia, it may be difficult to differentiate hemoglobin variants from these diseases based on HPLC-HbA1c levels alone. Similar HbA1c values using both HPLC and immunoassays (IAs) are noted for these diseases, while discrepancies are noted in the case of hemoglobin variants. Herein, we describe our process of differential diagnosis for hereditary spherocytosis, the most common inherited hemolytic anemia, in a 56-year-old man presenting with a low HPLC-HbA1c level compared to the glucose concentration, concomitant with anemia, jaundice, hyperbilirubinemia, cholelithiasis, and splenomegaly. There was a discrepancy between HbA1c levels measured with HPLC and IAs and glycated albumin levels. The possibility of hemoglobin variants was unlikely, based on the chromatography and isoelectric focusing results. The haptoglobin levels and reticulocyte counts were low and high, respectively. The direct and indirect Coomb's tests were negative. The presence of spherocytes on blood smears and flow cytometric analysis of the eosin-5-maleimide binding test supported a diagnosis of hereditary spherocytosis. We recommend that when a discrepancy between HPLC-HbA1c levels and glucose concentrations is noted, clinicians should consider hemolysis or hemoglobin variants as the diagnosis. It should be considered that a discrepancy between HbA1c levels measured with HPLC and IAs does not specifically exclude hemolysis.
糖化血红蛋白(HbA1c)是糖尿病患者血糖控制的重要指标。高效液相色谱法(HPLC)是测量HbA1c水平最常用的方法;由于HPLC可测量所有血红蛋白类型,其值可能会受到血红蛋白变异体的影响。此外,在包括溶血性贫血在内的一些疾病中,HPLC-HbA1c水平较低,仅根据HPLC-HbA1c水平可能难以区分这些疾病与血红蛋白变异体。这些疾病使用HPLC和免疫测定法(IA)测得的HbA1c值相似,而在血红蛋白变异体的情况下则存在差异。在此,我们描述了对一名56岁男性进行遗传性球形红细胞增多症(最常见的遗传性溶血性贫血)鉴别诊断的过程,该患者的HPLC-HbA1c水平相对于血糖浓度较低,同时伴有贫血、黄疸、高胆红素血症、胆石症和脾肿大。用HPLC和IA测得的HbA1c水平与糖化白蛋白水平之间存在差异。根据色谱分析和等电聚焦结果,血红蛋白变异体的可能性不大。触珠蛋白水平低,网织红细胞计数高。直接和间接抗人球蛋白试验均为阴性。血涂片上出现球形红细胞以及嗜酸性-5-马来酰亚胺结合试验的流式细胞术分析支持遗传性球形红细胞增多症的诊断。我们建议,当注意到HPLC-HbA1c水平与血糖浓度之间存在差异时,临床医生应考虑溶血或血红蛋白变异体作为诊断。应考虑到用HPLC和IA测得的HbA1c水平之间的差异并不能特异性排除溶血。