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目的运用高通量红细胞血型基因的多重连接依赖的探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)辅助诊断一例罕见的由抗Di~a导致的严重核黄疸新生儿溶血病。方法运用传统的血型血清学方法对导致新生儿溶血病相关红细胞血型抗体进行鉴定,运用MLPA对患儿及其父母的超过40种红细胞血型抗原进行基因分型,对鉴定的抗体进行效价分析。结果血型血清学检测表明患儿体内含有针对某种低频抗原的抗体,MLPA基因分析结果提示母婴红细胞MNS血型系统及Diego血型系统抗原不匹配,可能存在抗N或抗Di~a,经进一步的血型血清学检测,证实母亲及患儿血清中存在抗Di~a,并且其母亲血清抗Di~a效价为1:32。结论抗Di~a可引起包括核黄疸在内的严重新生儿溶血病;高通量红细胞血型基因分型的MLPA技术能够协助并有效解决临床疑难样本稀有血型鉴定;针对国人的Di~a阳性的试剂红细胞应该常规应用于日常的抗体筛查工作中。
Objective To detect a rare hemolytic disease caused by anti-Diarrhea in neonates with severe kernicterus by multiplex ligation-dependent probe amplification (MLPA) using high-throughput erythrocyte blood group genes. Methods The traditional blood group serological method was used to identify the erythrocyte blood group antibody which caused hemolytic disease in newborn. The MLPA was used to genotype more than 40 kinds of erythrocyte blood group antigen in children and their parents, and the titer of the identified antibody was analyzed. Results The results of blood group serological tests showed that the antibodies against some low-frequency antigens were present in the children. MLPA gene analysis indicated that MNS blood group system and Diego blood group system antigens did not match with anti-N or anti-Di-a antibodies, and further Blood type serological tests confirmed the presence of anti-Di-a in maternal and pediatric serum, and a maternal anti-Di-a titer of 1:32. Conclusion Anti-Dia can cause severe neonatal hemolytic disease including kernicterus jaundice; MLPA technique of high-throughput erythrocyte blood group genotyping can assist and effectively solve the rare blood group identification of clinical difficult samples; Reagents RBCs should routinely be used in routine antibody screening efforts.