血红蛋白O帕多瓦与1型糖尿病患者血红蛋白A1c假性降低
Haemoglobin O Padova and falsely low haemoglobin A1c in a patient with type I diabetes.
作者信息
Schnedl W J, Reisinger E C, Katzensteiner S, Lipp R W, Schreiber F, Hopmeier P, Krejs G J
机构信息
Department of Internal Medicine, Karl Franzens, University, Graz, Austria.
出版信息
J Clin Pathol. 1997 May;50(5):434-5. doi: 10.1136/jcp.50.5.434.
Glycated haemoglobin (HbA1c) measured by high performance liquid chromatography (HPLC) in a 20 year old female with insulin dependent diabetes mellitus was consistently within the normal range although her daily blood glucose values were > 11.1 mmol/l. HbA1c measured by immunoagglutination and fructosamine was elevated and correlated with the patient's blood glucose values. The HPLC chromatogram showed an additional peak at HbA0. Electrophoresis of haemoglobin on citrate agar gel revealed an abnormal haemoglobin anodal of HbS. Cellulose acetate electrophoresis and isoelectric focusing demonstrated an additional haemoglobin migrating close to HbA2. Amino acid analysis and DNA sequencing revealed an alpha 30 (B11) Glu-->Lys replacement, that is, haemoglobin O Padova. Investigations of two family members without diabetes revealed the same rare haemoglobin variant. This case showed that this silent haemoglobin mutation caused an additional peak and falsely low HbA1c values when measured by HPLC, the gold standard for this evaluation.
在一名20岁的胰岛素依赖型糖尿病女性患者中，通过高效液相色谱法（HPLC）测定的糖化血红蛋白（HbA1c）始终处于正常范围内，尽管其每日血糖值>11.1 mmol/L。通过免疫凝集法和果糖胺测定的HbA1c升高，且与患者的血糖值相关。HPLC色谱图显示在HbA0处有一个额外的峰。在枸橼酸盐琼脂凝胶上进行血红蛋白电泳显示出一个位于HbS阳极的异常血红蛋白。醋酸纤维素电泳和等电聚焦显示有另一种血红蛋白迁移至靠近HbA2的位置。氨基酸分析和DNA测序显示α30（B11）位点存在谷氨酸被赖氨酸取代的情况，即血红蛋白O帕多瓦。对两名无糖尿病的家庭成员进行调查发现了相同的罕见血红蛋白变异体。该病例表明，这种沉默的血红蛋白突变在通过HPLC（此评估的金标准）测量时会导致额外的峰以及错误的低HbA1c值。
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