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 gene typing techniques successfully identified the rare Jr(a-) blood type and high-frequency anti-Jra antibodies. Enzyme-treated red blood cell identification methods confirmed the presence of anti-Jra antibodies. By searching within the family and seeking help from other blood centers, compatible blood was found. This approach may provide insights for resolving similar complex blood matching problems in the future.
武云香,王华,郭瑞清,等. 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[J]. 中华医学遗传学杂志,2025,42(02)：145-150.
DOI:10.3760/cma.j.cn511374-20240930-00515版权归中华医学会所有。
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武云香：酝酿和设计实验、起草文章；王华：分析/解释数据；郭瑞清、李志诚、李卿、王菲、左江涛：实施研究；徐熠、梁雅珺：采集数据、分析/解释数据；向东、李艾静：实施研究、行政/技术/材料支持；姬艳丽：支持性贡献；赵俸涌：对文章的知识性内容作批评性审阅；张德梅：获取研究经费、行政/技术/材料支持
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