Detection and analysis of ABO blood group forward and reverse typing inconsistency caused by ABO blood group antibody deficiency
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摘要: 目的 分析ABO血型反定型抗体缺失样本的血型血清学及基因检测结果,探讨ABO血型抗体缺失的原因和输血策略。方法 采用Ortho AutoVue全自动血型系统对该院2019年11月至2023年10月33 296例患者进行常规ABO血型检测,选择ABO血型正反定型不符疑为抗体缺失者,采用盐水试管法复核并增加ABO亚型检测、吸收放散试验检测红细胞上的A或B抗原,对ABO基因第6和第7外显子进行测序分析。结果 95例ABO血型正反定型不符样本中,7例疑为血型抗体缺失,其中4例确认为ABO血型抗原减弱,3例确认为ABO血型抗体缺失,本地区ABO血型抗体缺失检出率0.09‰,经过基因测序分析,确定血型抗体缺失者基因型分别为 B.01/O.01.02、O.01.13/O.01.13、B.01/O.01.01 。结论 疑似ABO血型抗体缺失者需要从正定型和反定型分别进行检测分析,ABO基因检测可明确具体ABO基因型,提高ABO血型鉴定的准确性并可明确ABO血型抗体缺失现象。对于疑似或确定为ABO血型抗体缺失者的输血,可采用相容性输血的方式。Abstract: Objective To analyze the serological and genetic test results of samples with ABO reverse typing antibody deficiency, and to explore the causes of ABO reverse typing antibody deficiency and transfusion strategy.Methods The Ortho AutoVue automatic blood group system was used to perform routine ABO blood group testing for 33 296 patients in the hospital from November 2019 to October 2023. Those who were suspected of antibody deficiency due to the inconsistency of ABO blood group forward and reverse typing were selected. ABO subgroup detection, A or B antigen detection on red blood cells, and exon 6 and 7 of ABO gene sequencing were performed.Results Among the 95 cases of ABO blood group positive and reverse typing discrepancies, 7 cases were suspected to be ABO blood group antibody deficiency, of which 4 cases were confirmed to be ABO blood group antigen weakening and 3 cases were confirmed to be ABO blood group antibody deficiency. The detection rate of ABO blood group antibody deficiency in this region was 0.09‰. After gene sequencing analysis, the genotypes were B.01/O.01.02、O.01.13/O.01.13、B.01/O.01.01 .Conclusion Suspected ABO blood group antibody deficiency needs to be detected and analyzed from forward typing and reverse typing respectively. ABO gene testing can clarify the specific ABO genotype, improve the accuracy of ABO blood group identification and identify the phenomenon of ABO blood group antibody deficiency. Compatible transfusion can be used for patients who were suspected or confirmed ABO blood group antibody deficiency.
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表 1 3例ABO血型抗体缺失样本的盐水试管法检测结果
编号 ABO正定型 ABO反定型 患者红细胞吸收放散 抗-A 抗-B 抗-A1 抗-AB 抗-H A1c Bc Oc 自身对照 A1c Bc 1 0 4+ 0 4+ 2+ 0 0 0 0 0 / 2 0 0 0 0 4+ 0 0 0 0 0 + 3 0 4+ 0 4+ 2+ 0 0 0 0 0 / 注:“/”为未检测。 表 2 ABO反定型盐水试管法增强检测结果
编号 4℃ 10 min 血浆加倍 离心2次 A1c Bc A1c Bc A1c Bc 1 0 0 0 0 0 0 2 0 0 0 0 0 0 3 0 0 0 0 0 0 表 3 3例样本的ABO基因第6、7外显子测序结果
样本 碱基突变位点* 氨基酸替换 基因型 1 c.297A>G;c.526C>G;c.657C>T;c.703G>A;c.796C>A;c.803G>C;c.930G>A c.106G>T;c.188G>A;c.189C>T;c.220C>T;c.261delG;c.297A>G;c.646T>A;c.681G>A;c.771C>T;c.829G>A p.Arg176Gly;p.Gly235Ser;p.Leu266Met;.Gly268Ala;p.Val36Phe;p.Arg63His;p.Pro74Ser;p.Thr88Profs*31 B.01/O.01.02 2 c.261delG;c.297A>G;c.646T>A;c.681G>A;c.771C>T;c.829G>A c.261delG;c.297A>G;c.646T>A;c.681G>A;c.771C>T;c.829G>A p.Thr88Profs*31 p.Thr88Profs*31 O.01.13/O.01.13 3 c.297A>G;c.526C>G;c.657C>T;c.703G>A;c.796C>A;c.803G>C;c.930G>A c.261delG p.Arg176Gly;p.Gly235Ser;p.Leu266Met;p.Gly268Ala;p.Thr88Profs*31 B.01/O.01.01 注:*与 A1.01 标准序列相比较。 表 4 其他检验结果
相关检验结果 ALB (40~ 55 g/L) GLB (20~ 40 g/L) 清蛋白(46.6%~ 62.2%) α1球蛋白(1.7%~ 4.1%) α2球蛋白(5.9%~ 13.5%) β球蛋白(10.9%~ 18.9%) γ球蛋白(11.6%~ 22.4%) WBC (3.5×109/L~ 9.5×109/L) 淋巴细胞数(1.1×109/L~ 3.2×109/L) 1 46.80 27.20 / / / / / 6.85 2.23 2 42.30 32.10 57.00 2.40 6.88 9.20 24.52 9.15 2.90 3 35.50 22.10 56.00 5.08 9.76 12.38 16 8.02 1.81 注:“/”为未检测。 -
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