血红蛋白塞维利亚[α2β281(EF5)亮氨酸→苯丙氨酸]是一种沉默表型变异体，它会干扰离子交换 HPLC 法测定血红蛋白 A1c。
Hemoglobin Seville [α2 β2 81(EF5) Leu→Phe] a silent phenotypic variant that interferes in hemoglobin A1c measurement by ion-exchange HPLC method.
机构信息
Department of Clinical Biochemistry, Virgen del Rocio University Hospital. Instituto de Biomedicina de Sevilla (IBIS/CSIC/University of Sevilla), Avda. Manuel Siurot, s/n. 41013 Seville, Spain.
出版信息
Clin Biochem. 2011 Jul;44(10-11):933-5. doi: 10.1016/j.clinbiochem.2011.04.007. Epub 2011 Apr 29.
OBJECTIVES
The aim of the study was to investigate hemoglobin (Hb) species in a 61 year-old male with diabetes mellitus type II and a low value of Hb A(1c).
DESIGN AND METHODS
Hb species were analyzed by electrophoresis and chromatography methods. Functional properties were determined by oxygen equilibrium studies. β-globin gene was amplified by PCR and sequenced.
RESULTS AND CONCLUSIONS
A novel clinically silent Hb (Hb Seville), that results in falsely low Hb A(1c) measurement, was detected. This Hb variant presented a single base mutation at codon 81 (C→T) of the β-globin gene. This case points out the necessity of careful inspection of the chromatograms and the use of additional methods to Hb A(1c) measurement when the presence of aberrant peaks is detected.
目的
本研究旨在探讨一位 61 岁患有 II 型糖尿病的男性患者的血红蛋白（Hb）种类，该患者的 HbA1c 值较低。
设计和方法
采用电泳和色谱方法分析 Hb 种类。通过氧平衡研究测定功能特性。采用 PCR 扩增β-珠蛋白基因并进行测序。
结果和结论
检测到一种新型的临床无症状 Hb（Hb Seville），其导致 HbA1c 测量值偏低。这种 Hb 变体在β-珠蛋白基因的 81 密码子（C→T）处发生单碱基突变。该病例表明，当检测到异常峰时，有必要仔细检查色谱图并使用其他方法测量 HbA1c。
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