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毛细管电泳期间的沉默血红蛋白变异体:一例报告。

Silent hemoglobin variant during capillary electrophoresis: A case report.

作者信息

Yuan Yanping, Zhou Xianghai, Gao Leili, Ren Qian, Ji Linong

机构信息

Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China.

出版信息

J Diabetes Investig. 2020 Jul;11(4):1014-1017. doi: 10.1111/jdi.13222. Epub 2020 Mar 18.

Abstract

Hemoglobin (Hb) North Manchester [β51(D2) Pro→His; HBB:c.155 C>A] is a rare Hb β-globin gene variant that affects glycated Hb measurement values, such as ion-exchange high-performance liquid chromatography, in patients with diabetes. This variant was first detected in the UK in 1998. Here, we describe the first case involving Hb North Manchester detected incidentally in a patient with type 2 diabetes in Northern China. The Hb variant was discovered by ion-exchange high-performance liquid chromatography, yet capillary electrophoresis of both glycated Hb program and Hb program failed to detect it. Subsequently, Sanger sequencing was carried out to help identify the Hb variant.

摘要

血红蛋白(Hb)北曼彻斯特[β51(D2)脯氨酸→组氨酸;HBB:c.155 C>A]是一种罕见的Hbβ-珠蛋白基因变异体,会影响糖尿病患者糖化血红蛋白的测量值,如离子交换高效液相色谱法测得的值。该变异体于1998年在英国首次被检测到。在此,我们描述了中国北方一名2型糖尿病患者偶然检测出携带血红蛋白北曼彻斯特变异体的首例病例。该血红蛋白变异体通过离子交换高效液相色谱法被发现,但糖化血红蛋白检测程序和血红蛋白检测程序的毛细管电泳均未能检测到它。随后,进行了桑格测序以帮助鉴定该血红蛋白变异体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ea2/7378421/f3fd4ac40d6b/JDI-11-1014-g001.jpg

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