1例阵发性睡眠性血红蛋白尿患者Aw37B亚型的血清学和分子学鉴定及输血策略  

Serological and genetic analysis of Aw37B subgroup in one patient with paroxysmal nocturnal hemoglobinuria and transfusion strategy

作　　者：郑娟娟 丁国良 冯俊奎 刘俊汝 孙佳琪 阎培培 田军[1] Zheng Juanjuan;Ding Guoliang;Feng Junkui;Liu Junru;Sun Jiaqi;Yan Peipei;Tian Jun(Department of Blood Transfusion,Qilu Hospital of Shandong University Dezhou Hospital,Dezhou 253000,Shandong Province,China;Dongying Blood Center,Dongying 257091,Shandong Province,China;Department of Medical Equipment,Chuangchun Bioxun Biotech Company Limited,Changchun 130012,Jilin Province,China)

机构地区：[1]山东大学齐鲁医院德州医院输血科,德州253000 [2]山东省东营市中心血站,东营257091 [3]长春博迅生物技术有限责任公司医药器械科,长春130012

出　　处：《国际输血及血液学杂志》2024年第6期533-538,共6页International Journal of Blood Transfusion and Hematology

摘　　要：目的探讨阵发性睡眠性血红蛋白尿(PNH)患者ABO亚型的血清学和分子学鉴定,以及输血策略。方法选择2023年8月24日于山东大学齐鲁医院德州医院接受住院治疗的1例PNH患者为研究对象。本例患者为男性,48岁,输血前输血相容性试验结果提示ABO血型正反定型不相符。对本例患者ABO血型的血清学鉴定采用微柱凝胶法、试管法和吸收放散试验;分子学鉴定采用PCR对ABO基因第2~7外显子进行扩增、测序,再与参比基因ABO*A1.01序列进行对比;选择O型洗涤红细胞配合型输血,并比较红细胞输注前后主要实验室指标变化和输血反应发生情况,评估输注有效性和安全性。本研究遵循的程序符合山东大学齐鲁医院德州医院人体试验委员会制定的标准,经过该伦理委员会批准(批准文号:2023108),并与患者签署临床研究知情同意书。结果①本例PNH患者ABO血型血清学试验结果为A亚B。②本例患者的ABO基因第2~7外显子测序结果与ABO*A1.01序列比对显示,患者存在第7外显子c.940A>G杂合突变,其ABO基因型为Aw37/B01。③本例患者血清标本与O型洗涤红细胞交叉配血试验结果相合。④患者接受O型洗涤红细胞输注后,无输血不良反应发生,血红蛋白(Hb)值升高24 g/L,输血治疗有效。结论血清学方法联合基因测序为ABO亚型鉴定提供了可行方法,根据血型特点和疾病特性,选择合适血液输注,可保障临床用血安全。Objective To explore the serological and molecular identification of ABO subgroups in patients with paroxysmal nocturnal hemoglobinuria(PNH)and the transfusion strategy.Methods One patient with PNH who was admitted to Qilu Hospital of Shandong University Dezhou Hospital on August 24,2023 was selected as the research subject.The patient was a 48-year-old male.The results of the ABO blood group test indicated that the forward and reverse typing of ABO blood group did not match.The serological identification of ABO blood group of this patient was conducted using microcolumn gel method,tube method and absorption-elution test.The molecular identification was carried out by amplifying and sequencing the exons 2-7 of ABO gene by PCR and comparing with the reference gene ABO*A1.01 sequence.O-type washed red blood cells were selected for transfusion.The efficacy and safety were evaluated by comparing the changes of main laboratory indexes and the occurrence of transfusion reaction before and after red blood cell transfusion.The procedures followed in this study were in accordance with the standards established by the Committee of Investigation in Human Beings of Qilu Hospital of Shandong University Dezhou Hospital,and this study was approved by the committee(Approval No.2023108).This patient signed the informed consents for clinical trials.Results①The serological test result of ABO blood type for this PNH patient was A sub B.②The sequencing results of exon 2-7 of the ABO gene in this patient were compared with the ABO*A1.01 sequence,indicating that the patient had a heterozygous mutation of c.940A>G in exon 7,and the ABO genotype was Aw37/B01.③It was consistent with the results of O-type washing red blood cell cross matching test.④After O-type washing red blood transfusion,no adverse reactions occurred,hemoglobin(Hb)value were increased 24 g/L,and blood transfusion treatment was effective.Conclusions The serological method combined with genetic sequencing provides a feasible method for the identification of ABO su

关 键 词：血红蛋白尿 阵发性 ABO血型系统 血清学 分子生物学 红细胞输注 输血策略 

分 类 号：R457.1[医药卫生—治疗学]