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血红蛋白E多伦多型,在一名爱尔兰糖尿病患者中的偶然发现。

Haemoglobin Etobicoke, an incidental finding in an Irish diabetic.

作者信息

O'Brien D A, Flynn C M, Chuk P, Gorman C, Wild B, Browne P V

机构信息

Department of Haematology, St James's Hospital, Dublin, Ireland.

出版信息

Clin Lab Haematol. 2003 Aug;25(4):259-62. doi: 10.1046/j.1365-2257.2003.00530.x.

Abstract

It is well recognized that haemoglobin variants can be detected during the measurement of HbA1c by high-performance liquid chromatography (HPLC). A number of variants have been reported as compromising the quantification of HbA1c, a marker used in the assessment of glycaemic control in diabetes. We describe a case of haemoglobin Etobicoke, a rare alpha chain variant detected in an Irish diabetic during HbA1c analysis. Its identity was confirmed using a series of investigations. These included haemoglobin electrophoresis at alkaline and acid pH, isoelectric focusing and globin chain electrophoresis. Ultimately mass spectrometry isolated the mutation at position alpha 84 (F5). Haemoglobin Etobicoke, first described in Canada in 1969 has not previously been detected on HbA1c analysis. In the presence of this rare variant, HbA1c, a standard method using HPLC to assess glycaemic control in diabetes is unreliable and alternatives such as fructosamine need to be considered. HbA1c measured by automated HPLC will effectively screen populations where haemoglobin variants were not previously known. Precise identity of these variants when they are detected is crucial to the reliable interpretation of HbA1c analyses.

摘要

众所周知,通过高效液相色谱法(HPLC)测定糖化血红蛋白(HbA1c)时可检测出血红蛋白变异体。已有多项报道称,一些变异体会影响HbA1c的定量,而HbA1c是评估糖尿病血糖控制的一个指标。我们描述了一例血红蛋白伊顿科克(haemoglobin Etobicoke)病例,这是一种在一名爱尔兰糖尿病患者的HbA1c分析中检测到的罕见α链变异体。通过一系列调查确定了其身份。这些调查包括在碱性和酸性pH条件下的血红蛋白电泳、等电聚焦和珠蛋白链电泳。最终,质谱分析确定了α84(F5)位的突变。血红蛋白伊顿科克于1969年在加拿大首次被描述,此前在HbA1c分析中尚未被检测到。在存在这种罕见变异体的情况下,使用HPLC评估糖尿病血糖控制的标准方法HbA1c是不可靠的,需要考虑使用诸如果糖胺等替代方法。通过自动HPLC测定HbA1c将有效地筛查此前未知血红蛋白变异体的人群。检测到这些变异体时,其精确身份对于可靠解释HbA1c分析结果至关重要。

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