Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Department of Internal Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Front Endocrinol (Lausanne). 2020 Jun 19;11:356. doi: 10.3389/fendo.2020.00356. eCollection 2020.
Diabetes is a global disease with rapidly increasing prevalence in the world. Glycated hemoglobin (HbA1c) as an important indicator of diabetes could reflect the average serum glucose level over 120 days. However, when using HbA1c to diagnose diabetes, it is important to consider other factors that may impact HbA1c level including age, race/ethnicity, detection method, and co-morbidities. Here we report a case of diabetes with normal hemoglobin but reduced HbA1c. A 57-year-old female patient was diagnosed with diabetes by oral glucose tolerance test results. However, the HbA1c level was repeatedly decreased, glycated albumin level was high, with normal levels of hemoglobin and albumin, and a slightly elevated level of bilirubin. Moreover, life span of red blood cells was significantly shortened. Further examination of whole exome sequencing of the patient and her daughter showed heterozygous variant in gene (c.6017T > A) in both, which is associated with dehydration hereditary stomatocytosis (DHS). After this diagnosis, we changed nateglinide to sitagliptin to reduce the burden of the pancreas islet function. In case of abnormally low HbA1c, we recommend that GA and reticulocyte should be measured simultaneously. Moreover, the methodology for hemoglobin measurement and the diseases that could cause abnormal quantity and quality of red blood cells and hemoglobin be considered.
糖尿病是一种全球性疾病，其在世界范围内的患病率正在迅速上升。糖化血红蛋白（HbA1c）作为糖尿病的一个重要指标，可以反映 120 天内的平均血清葡萄糖水平。然而，在用 HbA1c 诊断糖尿病时，需要考虑其他可能影响 HbA1c 水平的因素，包括年龄、种族/民族、检测方法和合并症。在这里，我们报告了一例血红蛋白正常但 HbA1c 降低的糖尿病病例。一名 57 岁女性患者通过口服葡萄糖耐量试验结果被诊断为糖尿病。然而，HbA1c 水平反复降低，糖化白蛋白水平升高，血红蛋白和白蛋白水平正常，胆红素水平略有升高。此外，红细胞寿命明显缩短。对患者及其女儿的外显子组测序进一步检查显示，两人均携带基因（c.6017T > A）的杂合变异，与遗传性口形细胞脱水症（DHS）有关。作出这一诊断后，我们将那格列奈改为西格列汀，以减轻胰岛功能的负担。在 HbA1c 异常降低的情况下，建议同时测量 GA 和网织红细胞。此外，还应考虑血红蛋白测量方法以及可能导致红细胞和血红蛋白数量和质量异常的疾病。
