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DEL变异体的临床与实验室最新情况

Clinical and laboratory update on the DEL variant.

作者信息

Nuchnoi Pornlada, Thongbus Jairak, Srisarin Apapan, Kerdpin Usanee, Prachayasittikul Virapong

机构信息

Department of Clinical Microscopy, Mahidol University, Bangkok, Thailand Center for Innovation Development and Technology Transfer, Mahidol University, Bangkok, Thailand

Department of Clinical Microscopy, Mahidol University, Bangkok, Thailand National Blood Center, Thai Red Cross Society, Bangkok, Thailand.

出版信息

Lab Med. 2014 Fall;45(4):285-90. doi: 10.1309/LMTUZ00O7VFTGCEB.

DOI:10.1309/LMTUZ00O7VFTGCEB
PMID:25316658
Abstract

Serological assays for the RhD blood group are based on detection of the RhD antigen on human red blood cells using a specific anti-D antibody. The weak expression of the RhD antigen in the DEL variant hinders the sensitivity of conventional serological assays. Evidence of anti-D immunization in patients with D-negativity who have received DEL-variant blood units has been reported in various populations. This observation has prompted the need for genetic epidemiological and clinical data on the DEL variant in the development of DEL molecular diagnostic testing. This review highlights the molecular features of the DEL variant, the clinical consequences of DEL-blood transfusion, and current approaches for detection of the DEL-variant for donor screening and transfusion.

摘要

RhD血型的血清学检测基于使用特异性抗-D抗体检测人红细胞上的RhD抗原。DEL变异型中RhD抗原的弱表达会影响传统血清学检测的灵敏度。在不同人群中均有报道,接受DEL变异型血液单位的D阴性患者出现抗-D免疫的证据。这一观察结果促使在开发DEL分子诊断检测时需要有关DEL变异型的遗传流行病学和临床数据。本综述重点介绍了DEL变异型的分子特征、DEL血型输血的临床后果,以及目前用于供体筛查和输血的DEL变异型检测方法。

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