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血红蛋白韦恩变体及其与HbA假性升高的关联。

The Hemoglobin Wayne Variant and Association With Falsely Elevated HbA.

作者信息

Mulpuri Neha, Bryant Ananda, Shahin Daryoush, Soe Kyaw

机构信息

UT Southwestern Medical Center, Department of Internal Medicine, Dallas, TX 75390, USA.

VA North Texas Health Care System, Division of Endocrinology, Dallas, TX 75216, USA.

出版信息

JCEM Case Rep. 2023 May 8;1(3):luad043. doi: 10.1210/jcemcr/luad043. eCollection 2023 May.

DOI:10.1210/jcemcr/luad043
PMID:37908573
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10580435/
Abstract

The objective of this work is to explain the effect of the clinically silent hemoglobinopathy hemoglobin Wayne (Hb Wayne) variant on glycated hemoglobin A (HbA) assay. This variant can result in falsely high HbA values among euglycemic individuals without diabetes mellitus (DM). We discuss 3 patients who were diagnosed with type 2 DM based on spuriously high HbA values due to the presence of Hb Wayne. All 3 patients were found to have elevated HbA values that did not correlate with other glycemic parameters such as capillary blood sugar, 2-hour oral glucose tolerance test, and fructosamine levels. Hemoglobin electrophoresis revealed that each patient had a rare hemoglobinopathy called Hb Wayne variant. These patients were reassured that they did not have DM and were able to avoid unnecessary treatment. These cases emphasize the importance of clinical judgment in recognizing the limitations and caveats of the HbA test. It is always necessary to investigate further any discordance between HbA values and the clinical picture or other glycemic parameters.

摘要

这项工作的目的是解释临床上无症状的血红蛋白病——血红蛋白韦恩(Hb Wayne)变体对糖化血红蛋白A(HbA)检测的影响。这种变体可导致无糖尿病(DM)的血糖正常个体的HbA值出现假性升高。我们讨论了3例因存在Hb Wayne而基于假性升高的HbA值被诊断为2型糖尿病的患者。所有3例患者的HbA值均升高,且与其他血糖参数如毛细血管血糖、口服葡萄糖耐量试验2小时结果及果糖胺水平无关。血红蛋白电泳显示,每位患者都有一种罕见的血红蛋白病,称为Hb Wayne变体。这些患者得到了 reassured,即他们没有糖尿病,从而避免了不必要的治疗。这些病例强调了临床判断在认识HbA检测的局限性和注意事项方面的重要性。对于HbA值与临床表现或其他血糖参数之间的任何不一致,总是有必要进一步调查。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90e6/10580435/21fb4efdbe63/luad043f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90e6/10580435/21fb4efdbe63/luad043f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90e6/10580435/21fb4efdbe63/luad043f1.jpg

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本文引用的文献

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AACE Clin Case Rep. 2019 Jan 30;5(1):e59-e61. doi: 10.4158/ACCR-2018-0017. eCollection 2019 Jan-Feb.
2
Alarming increase in HbA1c and near misdiagnosis of diabetes mellitus resulting from a clinical laboratory instrument upgrade and haemoglobin variant.临床实验室仪器升级和血红蛋白变异导致糖化血红蛋白(HbA1c)惊人上升及糖尿病的误诊风险增加。
BMJ Case Rep. 2018 Jun 14;2018:bcr-2018-225358. doi: 10.1136/bcr-2018-225358.
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Recognition of rare hemoglobin variants by hemoglobin A measurement procedures.
通过血红蛋白 A 测量程序识别罕见的血红蛋白变体。
Clin Chim Acta. 2018 Jan;476:67-74. doi: 10.1016/j.cca.2017.11.012. Epub 2017 Nov 14.
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Cation-exchange high-performance liquid chromatography for variant hemoglobins and HbF/A2: What must hematopathologists know about methodology?用于检测变异血红蛋白和HbF/A2的阳离子交换高效液相色谱法:血液病理学家必须了解哪些方法学知识?
World J Methodol. 2016 Mar 26;6(1):20-4. doi: 10.5662/wjm.v6.i1.20.
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Hemoglobin variants: biochemical properties and clinical correlates.血红蛋白变体:生化特性与临床关联。
Cold Spring Harb Perspect Med. 2013 Mar 1;3(3):a011858. doi: 10.1101/cshperspect.a011858.
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A comprehensive analysis of hemoglobin variants by high-performance liquid chromatography (HPLC).
Int J Lab Hematol. 2012 Dec;34(6):594-604. doi: 10.1111/j.1751-553X.2012.01440.x. Epub 2012 Jun 20.
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A review of variant hemoglobins interfering with hemoglobin A1c measurement.干扰糖化血红蛋白测量的变异血红蛋白综述。
J Diabetes Sci Technol. 2009 May 1;3(3):446-51. doi: 10.1177/193229680900300307.
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Silent hemoglobin variants and determination of HbA(1c) with the high-resolution program of the HPLC HA-8160 hemoglobin analyzer.沉默型血红蛋白变异体与采用高效液相色谱法HA - 8160血红蛋白分析仪的高分辨率程序测定糖化血红蛋白A1c
Clin Biochem. 2005 Jan;38(1):88-91. doi: 10.1016/j.clinbiochem.2004.09.016.
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