[Genotyping for Auxiliary Identification of Anti-C Alloantibody with Anti-f Autoantibody Mimicking Alloantibody]

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2020 Oct;28(5):1740-1745. doi: 10.19746/j.cnki.issn.1009-2137.2020.05.051.
[Article in Chinese]

Abstract

Objective: To identify the difficult antibody specificity of 1 PNH patient with blood transfusion history by genotyping.

Methods: RH typing of this patient was performed using gel card method, the antibody specificity was identified by panel cells, the RH-unrelated phenotype were excluded by genotyping method in difficult condition of serologic identification, furthmore different RH phenotype cells were used for adsorption-elution so as to re-examine the reactivity of antibodies in this patient's serum, and finally different RH phenotype cells were combined to exclude other unrelated antibodies.

Results: The RH phenotype presented as double population for C antigen, and positive agglutination for the other antigens. The results of RHD zygote, together with RHD and RHCE sequencing showed that the RHD genotype was homozygous RHD/RHD, and the c.122A>G mutation did not found in RHCE gene, thus CW antigen was excluded; 48G lies in the 1st exon, the 5th exon showed nt676 G/C heterozygosity, the 2nd-4th, 6th-10th exons did not show mutations, however a new mutation was found in the 4th intron IVS4+29A>C. It can be judged that the RH genotype was Dce/DcE, and its phenotype should be ccDEe. The anti-C alloantibody and rare anti-f autoantibody mimicking alloantibody in serum was determined by different RH phenotypic cell absorption-elution. Finally, cross-matched AB ccDEE blood units were selected for the patient and there was no adverse reactions of blood transfusion occurred.

Conclusion: Genotyping can be auxiliarily applied to the identification of difficult antibodies in serum of a patient, thereby reducing the risk of blood transfusion.

题目: 基因分型技术对1例PNH患者抗-C同种抗体合并抗-f类同种自身抗体的辅助鉴定.

目的: 通过基因分型对1例有输血史的PNH患者疑难抗体进行鉴定.

方法: 采用卡式凝胶法检测患者RH分型, 谱细胞鉴定PNH患者抗体特异性。在血清学鉴定困难的情况下, 利用基因分型的方法排除RH无关表型, 利用不同的RH表型细胞分别吸收放散后进行抗体鉴定, 不同的RH表型细胞组合排除其它无关抗体.

结果: 卡式凝胶法鉴定显示RH分型C抗原存在双群, 其它抗原阳性, 分别进行RHD合子型鉴定、RHD和RHCE基因测序分析。结果显示, RHD基因型为纯合子RHD/RHD, RHCE基因未发现c.122A>G突变, 排除携带有CW抗原;RHCE第1外显子48G, 第5外显子存在676碱基G/C杂合, 第2-4、6-10外显子没有发生突变, 第4内含子发现一个新的突变IVS4+29A>C。因此可以判断出RH血型基因型为Dce/DcE, 其表型应该为ccDEe。结合不同的RH表型细胞吸收放散实验最终确定患者血清中含有抗-C同种抗体合并罕见的抗-f类同种自身抗体, 最后选择配血相合的AB型ccDEE的红细胞输注给患者, 未出现输血不良反应.

结论: 基因分型可以辅助用于患者血清中疑难抗体的鉴定, 从而减少患者输血风险.

MeSH terms

  • Autoantibodies
  • Blood Group Antigens* / genetics
  • Genotype
  • Humans
  • Isoantibodies
  • Rh-Hr Blood-Group System* / genetics

Substances

  • Autoantibodies
  • Blood Group Antigens
  • Isoantibodies
  • Rh-Hr Blood-Group System