1例RhDCCee表型个体产生类抗-e的分子机制及其输血策略*

doi:10.3969/j.issn.1671-2587.2026.02.018

临床输血与检验 ›› 2026, Vol. 28 ›› Issue (2): 263-267.DOI: 10.3969/j.issn.1671-2587.2026.02.018

1例RhDCCee表型个体产生类抗-e的分子机制及其输血策略^*

易品¹, 王明明¹, 陈诗彧², 朱奕¹, 党鑫堂¹, 邵超鹏¹, 伍昌林¹

¹深圳市第二人民医院输血科,深圳 518035;
²深圳市第二人民医院血液科,深圳 518035

收稿日期:2025-08-26 接受日期:2025-10-13 出版日期:2026-04-20 发布日期:2026-04-22
通讯作者: 伍昌林,主要从事免疫血液学及血型分子生物学方面研究,（E-mail）wuchlin@126.com。
作者简介:易品,主要从事血型分子生物学和血液免疫方面研究,（E-mail）293577156@qq.com。
基金资助:
^*本课题受广东省医学科研基金项目（No.B2024148）、深圳市科技计划项目（No.JCYJ20240813141121029）、深圳市血液中心科研课题（No.SZBC202314）资助

Molecular Mechanism and Transfusion Strategy of Anti-e Like Antibodies in a RhDCCee Phenotypic Individual

YI Pin¹, WANG Mingming¹, CHEN Shiyu², ZHU Yi¹, DANG Xintang¹, SHAO Chaopeng¹, WU Changlin¹

¹Department of Transfusion, Shenzhen Second People's Hospital (The First Affiliated Hospital of Shenzhen University), Guangdong Shenzhen 518035;
²Department of Hematology, Shenzhen Second People's Hospital (The First Affiliated Hospital of Shenzhen University), Guangdong Shenzhen 518035

Received:2025-08-26 Accepted:2025-10-13 Online:2026-04-20 Published:2026-04-22

摘要/Abstract

摘要： 目的探讨RhDCCee表型且携带冷抗体及类抗-e患者的分子机制及其精准输血策略。方法采用试管法、微柱凝胶卡法和吸收放散试验等血清学方法对患者血型和不规则抗体进行鉴定,采用聚合酶链反应-序列特异性引物（PCR-SSP）、荧光PCR、Sanger测序及三代测序对患者血型基因进行系统分析。采用Swissmodel对比分析携带常见等位基因和突变等位基因蛋白模型。结果患者血型血清学结果为B型、RhDCCee,患者不规则抗体鉴定结果包括冷抗体和抗-e。PCR-SSP和荧光PCR结果均为Ce/Ce,Sanger测序显示存在c.375C>G和c.827C>A,三代测序显示Exon2-3区域存在测序灰度显著降低。Swissmodel蛋白模型推测上述突变可能导致e抗原异常表达。输注ccEE表型供者红细胞未发生同种免疫且输血效果良好。结论冷抗体合并类抗-e共同干扰血型鉴定和交叉配血,RHCE基因c.375C>G、c.827C>A合并Exon2-3结构性变异导致e抗原异常表达。

关键词: 冷抗体, 类抗-e, 等位基因, 三代测序

Abstract: Objective To investigate the molecular mechanism and transfusion strategy of a RhDCCee phenotype patient with cold antibody and anti-e like antibody. Methods The blood type and irregular antibody specificity were identified by serological methods such as test tube method, microcolumn gel card method and absorption diffusion test. The blood type genes were systematically analyzed by PCR-SSP, fluorescent PCR, Sanger sequencing and third-generation sequencing. SWISS-MODEL was used to compare and analyze protein models carrying common and mutant alleles. Results ABO and Rh phenotypes were type B and RhDCCee. The irregular antibodies were positive and specific antibodies were cold antibodies and anti-e. The PCR SSP and fluorescence PCR results were both Ce/Ce. Sanger sequencing revealed the presence of c.375C>G and c.827C>A mutations. Third-generation sequencing showed that exon 2-3 were very low in sequencing depth and there might be structural variation. The SWISS-MODEL suggested that the above mutations may lead to abnormal expression of the e antigen. The patient was infused ccEE phenotype red blood cells. Conclusion Cold antibody combined with anti-e like antibody jointly interfere with blood typing and cross matching. RHCE gene c.375C>G, c.827C>A combined with structural variations in Exon2-3 lead to abnormal expression of e antigen.

Key words: Cold antibody, Anti-e like antibody, Allele, Third-generation sequencing

中图分类号:

R457.1R446.6

易品, 王明明, 陈诗彧, 朱奕, 党鑫堂, 邵超鹏, 伍昌林. 1例RhDCCee表型个体产生类抗-e的分子机制及其输血策略^*[J]. 临床输血与检验, 2026, 28(2): 263-267.

YI Pin, WANG Mingming, CHEN Shiyu, ZHU Yi, DANG Xintang, SHAO Chaopeng, WU Changlin. Molecular Mechanism and Transfusion Strategy of Anti-e Like Antibodies in a RhDCCee Phenotypic Individual[J]. JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE, 2026, 28(2): 263-267.

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1例RhDCCee表型个体产生类抗-e的分子机制及其输血策略^*

Molecular Mechanism and Transfusion Strategy of Anti-e Like Antibodies in a RhDCCee Phenotypic Individual

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