由于血红蛋白 E 和血红蛋白纽约复合杂合子导致的错误血红蛋白 A 值。
False hemoglobin A value as a result of compound heterozygotes of hemoglobin E and hemoglobin New York.
机构信息
Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China.
Department of Clinical Laboratory, Women and Children Care Hospital of Xing'an County, Guilin, Guangxi, China.
出版信息
J Diabetes Investig. 2023 Mar;14(3):494-497. doi: 10.1111/jdi.13971. Epub 2023 Jan 10.
The presence of hemoglobin (Hb) variants might interfere with some glycated hemoglobin (HbA ) measurements. There have been a few reports of compound Hb variants affecting HbA testing. Here, we report a case of the coinheritance of two Hb variants in the β-globin gene. High-performance liquid chromatography with the Hb program showed a high HbA level. Similarly, an E-window peak was separated on the high-performance liquid chromatography with a glycated Hb program. However, capillary electrophoresis showed two abnormal peaks and no HbA peak. Sanger sequencing confirmed the presence of Hb New York and HbE. This is the first report of a compound heterozygote for HbE and Hb New York. The double heterozygote caused erroneous results for HbA on high-performance liquid chromatography and enzyme assay.
血红蛋白（Hb）变异体的存在可能会干扰一些糖化血红蛋白（HbA）的测量。有一些报道称复合 Hb 变异体会影响 HbA 的检测。在这里，我们报告了一个β-珠蛋白基因中同时存在两种 Hb 变异体的病例。采用 Hb 程序的高效液相色谱法显示 HbA 水平较高。同样，采用糖化 Hb 程序的高效液相色谱法也分离出一个 E-窗峰。然而，毛细管电泳显示出两个异常峰，没有 HbA 峰。Sanger 测序证实存在 Hb New York 和 HbE。这是 HbE 和 Hb New York 复合杂合子的首例报告。双重杂合子导致高效液相色谱法和酶法检测 HbA 结果出现错误。
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