A case of α-chain variant hemoglobin (Hb Chad) with falsely high HbA1c levels measured by immunoassay
A case of α-chain variant hemoglobin (Hb Chad) with falsely high HbA1c levels measured by immunoassay
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一例通过免疫测定测量 HbA1c 水平假高的 α 链变异血红蛋白 (Hb Chad)
DOI：
10.1007/s13340-021-00529-y
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发表时间：
2022
影响因子：
2.2
通讯作者：
Masafumi Koga
中科院分区：
文献类型：
--
作者：
Kei Yoshino;Yushi Hirota;Wataru Ogawa;Kenji Sugawara;Akira Kawaguchi;Hiroshi Yoshino;Midori Ishibashi;Gen Yoshino;Masafumi Koga
在糖尿病的诊断和治疗过程中经常会检测到变异血红蛋白。我们在此描述一例α2-链变异血红蛋白（Hb Chad），其被鉴定为不同检测方法测定的HbA 1cs值差异的结果。因此，通过免疫测定法测定的HbA 1c假性偏高，而通过高效液相色谱法（HPLC）测定的HbA 1c略低。测序分析显示α2-珠蛋白基因第23位氨基酸存在杂合性GAG（谷氨酸）→ AAG（赖氨酸）突变。该残基位于血红蛋白晶体结构中α链的表面。通过免疫测定法测定的高HbA 1c值可能是变体血红蛋白抗原性增加的结果，而通过HPLC测定的低值反映了变体相对于野生型蛋白的差异分级。迄今为止，仅在3例病例中报告了Hb Chad，并首次测量了HbA 1c。这是由于α链变体血红蛋白的抗原性增加而通过免疫测定法测量的HbA 1c假性偏高的首例病例。该病例强调了在怀疑HbA 1c异常时与其他血糖相关参数（如糖化白蛋白）进行比较的重要性。
Variant hemoglobin is often detected during the diagnosis and treatment of diabetes mellitus. We here describe a case of α2-chain variant hemoglobin (Hb Chad) that was identified as a result of differences in HbA1cs values determined by different assays. HbA1c measured by immunoassay was thus falsely high, whereas that measured by high-performance liquid chromatography (HPLC) was slightly low. Sequencing analysis revealed a heterozygous GAG (glutamic acid) → AAG (lysine) mutation at amino acid position 23 of the α2-globin gene. This residue is located at the surface of the α-chain in the crystal structure of hemoglobin. The high HbA1c value determined by immunoassay might have been the result of increased antigenicity of the variant hemoglobin, whereas the low value measured by HPLC reflected differential fractionation of the variant relative to the wild-type protein. Hb Chad has been reported in only three cases to date, and HbA1c was measured for the first time. This is the first case where falsely high HbA1c measured by immunoassay due to increased antigenicity in α-chain variant hemoglobin. This case highlights the importance of comparison with other parameters related to plasma glucose such as glycated albumin if an HbA1c abnormality is suspected.
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