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中华养生保健 ›› 2024, Vol. 42 ›› Issue (22): 11-14.

• 论著 • 上一篇    下一篇

基于“血清学试验+分子生物学技术”对一例疑难血型的鉴定分析

龚燕1, 张维莉1, 金沙2,*   

  1. 1.贵阳市第二人民医院输血科,贵州 贵阳,550081;
    2.上海市血液中心,上海,200000
  • 出版日期:2024-11-16 发布日期:2024-11-13
  • 通讯作者: *金沙,E-mail:jinsha0626@iCloud.com。
  • 作者简介:龚燕(1986—),女,汉族,籍贯:贵州省贵阳市,本科,主管技师,研究方向:输血学研究。

Analysis of A Case of Difficult Blood Group Identification Based on “Serologic Tests + Molecular Biology Techniques”

GONG Yan1, ZHANG Wei-li1, JIN Sha2,*   

  1. 1. Guiyang Second People’s Hospital, Guiyang Guizhou 550081, China;
    2. Shanghai Blood Center, Shanghai 200000, China
  • Online:2024-11-16 Published:2024-11-13

摘要: 目的 通过分享一例ABO血型正反定型不符患者的血型鉴定分析过程,提高临床实验室对疑难血型的认识及处理能力,确保临床用血安全。方法 采集贵阳市第二人民医院重症医学科一例ABO血型正反定型不符患者的血液标本,采用血型血清学试验和基因检测技术对患者ABO血型进行鉴定分析。结果 患者样本ABO血型正定型为B型、反定型为AB型;不规则抗体筛查、直接抗人球蛋白试验和间接抗人球蛋白试验均为阴性,吸收放散试验提示红细胞上含有A抗原。PCR基因扩增及测序显示,样本基因与ABO*A1.02和ABO*B.01相符,基因型为A1/B型,表型为A1B型;ABO基因第6号外显子297A>G及第7号外显子467C>T、526C>G、657C>T、703G>A、796C>A、803G>C、874C>G、930G>A出现多个位点基因突变,其中7号外显子874C>G基因突变尚未记录在国际输血协会。结论 通过血型血清学试验和分子生物学技术最终判定患者ABO血型为A1B型,患者7号外显子上的874C>G基因位点突变可能是本研究首次报道的一个新发现。基因位点突变干扰血型的正确鉴定,联合运用血清学试验和分子生物学技术,对于正确鉴定血型和保证临床安全输血治疗具有重要意义。

关键词: 血型, ABO血型, 疑难血型, 血清学试验, 分子生物学技术, 基因突变

Abstract: Objective To share the blood group identification and analysis process of a patient whose ABO blood type does not match the positive and negative typing, so as to improve the recognition and processing ability of the clinical laboratory on difficult blood types and ensure the safety of clinical blood use. Methods The blood samples were collected from a patient whose ABO blood group did not match the positive and negative types in the Department of Critical Care Medicine of Guiyang Second Hospital. Serological test and gene detection were used to identify the ABO blood group of the patient. Results The positive type of ABO blood group in patient samples is B type and the negative type is AB type. Irregular antibody screening direct anti-human globulin test and indirect anti-human globulin test were negative. Absorption-emission test suggested that red blood cells contained A antigen PCR gene amplification and sequencing showed that the genotype of ABO*A1.02 and ABO*B.01 was A1/B type and A1B type; ABO gene mutations in exon 6 297A>G and exon 7 467C>T, 526C>G, 657C>T, 703G>A, 796C>A, 803G>C, 874C>G, 930G>A of the ABO gene have not been recorded in the International Blood Transfusion Association. Conclusion The ABO blood group of the patient was finally determined as A1B by serological test and molecular biological technology. The 874C>G gene mutation on the patient's exon 7 may be a new discovery revealed by this study for the first time. Gene site mutation interferes with the correct identification of blood type, and the combination of serological tests and molecular biology technology is of great significance for the correct identification of blood type and ensuring clinical safe blood transfusion treatment.

Key words: blood type, ABO blood group, difficult blood type, serological test, molecular biology technology, gene mutation

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