Jr(a-)稀有血型抗-Jra患者的血清学与分子生物学鉴定及输血策略  

Identification of Jr(a-)rare blood type antibodies against anti-Jra:serological and molecular biology analysis and transfusion strategy

作　　者：武云香 王华 郭瑞清 李志诚 李卿 向东[2] 姬艳丽[3] 李艾静 赵俸涌[2] 王菲 左江涛 徐熠 梁雅珺 张德梅 Wu Yunxiang;Wang Hua;Guo Ruiqing;Li Zhicheng;Li Qing;Xiang Dong;Ji Yanli;Li Aijing;Zhao Fengyong;Wang Fei;Zuo Jiangtao;Xu Yi;Liang Yajun;Zhang Demei(Taiyuan Blood Center(Blood Transfusion Research Laboratory),Taiyuan,Shanxi 030024,China;Shanghai Blood Center,Shanghai 200051,China;Guangzhou Blood Center,Guangzhou,Guangdong 510410,China)

机构地区：[1]太原市血液中心(太原市输血技术研究所),太原030024 [2]上海市血液中心,上海200051 [3]广州血液中心,广州510410

出　　处：《中华医学遗传学杂志》2025年第2期145-150,共6页Chinese Journal of Medical Genetics

基　　金：太原市科技局太原市卫生健康委"六个一批"专项行动科研项目(Y2024016);太原市医学重点学科(太原市卫生健康委员会资助:2023-12-23);太原市医学科技创新平台(太原市卫生健康委员会资助:2024-08-28)。

摘　　要：目的报告1例产生高频抗体患者的血型抗原和抗体特异性鉴定方法,为其寻找和提供相合血液的过程。方法选取2022年11月由山西省人民医院输血科送检至太原市血液中心的1例患者为研究对象。采用经典血清学方法对患者进行血型鉴定、意外抗体筛查、鉴定及交叉配血;采用多种酶处理后的红细胞进行高频抗体鉴定;采用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF)检测技术和Sanger测序进行血型基因分型;采取多种策略解决患者血源问题。本研究已通过太原市血液中心医学伦理委员会的审查[批准号:2024年伦审字第(2)号]。结果①患者血型为B型,RhD阳性;其血清与多种抗筛细胞和抗体鉴定细胞在盐水介质中均呈阴性,在抗球蛋白介质中均呈阳性,与多种酶处理后的红细胞反应强度存在差异。②MALDI-TOF和Sanger测序检测结果提示患者为ABCG2基因外显子4发生纯合无义变异c.376C>T(p.Gln126Ter)导致的Jr(a-)表型;在进行亲属供者选择中发现其儿子不仅存在c.376C>T(p.Gln126Ter)杂合变异,还存在c.421C>A(p.Gln141Lys)杂合变异,预测为Jr(a+w)表型。③通过交叉配血试验,使用相合的血液(患者儿子)解决了患者的急救用血问题;在后续治疗中,患者使用了广州血液中心支援的Jr(a-)稀有血型供者血液,解决其用血需求。结论通过经典的血清学检测和血型基因分型检测技术相结合的方法可鉴定出Jr(a-)稀有血型,通过多种酶处理红细胞的鉴定方法可鉴定出抗-Jra高频抗体;通过从家系中寻找及全国血液中心求助的策略寻找相合的血源,可为日后解决疑难配血问题提供借鉴思路。ObjectiveTo report the blood group antigen and antibody specificity identification methods for a patient with high-frequency antibodies,and the process of finding and providing compatible blood for the patient.MethodsA patient sent from the Blood Transfusion Department of Shanxi Provincial People′s Hospital to Taiyuan Blood Center in November 2022 was selected for the study.Classical serological methods were used to determine the patient′s blood type,screen for unexpected antibodies,identify antibodies,and perform crossmatching.High-frequency antibody identification was carried out using red blood cells treated with various enzymes.Blood group genotyping was conducted using Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry(MALDI-TOF)and Sanger sequencing.Multiple strategies were employed to address the patient′s blood source problem.The study was approved by the Medical Ethics Committee of Taiyuan Blood Center[Ethics No.2024 Ethics Review No.(2)].Results①The patient′s blood type was B,RhD positive.Initial screening of the patient′s serum with multiple screening cells and antibody identification cells in saline medium was negative,but positive in antiglobulin medium.The patient′s serum showed varying reaction intensities with red blood cells treated with different enzymes.②MALDI-TOF mass spectrometry and Sanger sequencing revealed a homozygous nonsense variant c.376C>T(p.Gln126Ter)in the ABCG2 gene,resulting in the Jr(a-)phenotype.During family donor selection,the patient′s son was found to have a heterozygous variant c.376C>T(p.Gln126Ter),and another heterozygous variant c.421C>A(p.Gln141Lys),which predicted a Jr(a+w)phenotype.③Crossmatch tests confirmed the compatibility of blood from the patient′s son,which was used to address the urgent blood requirement.Later,rare blood from a Jr(a-)donor from the Guangzhou Blood Center was used for the patient′s ongoing treatment,saving the patient′s life.ConclusionCombining classic serological testing with blood group gen

关 键 词：Jr(a-)稀有血型 抗-Jra 基质辅助激光解吸电离飞行时间质谱 疑难配血 ABCG2基因 

分 类 号：R457.1[医药卫生—治疗学]