临床罕见的类孟买血型检测鉴定( 附1例报告)  

Detection and identification of para-Bombay blood group(report of 1 case)

作　　者：潘英芳 徐群[1] 孙昌魁[1] 宋永红[1] 李京[1] 吕红娟[1] 周娜 乔文本 PAN Yingfang;XU Qun;SUN Changkui;SONG Yonghong;LI Jing;LYU Hongjuan;ZHOU Na;QIAO Wenben(Blood Center of Shandong Province,Jinan 250014,China)

机构地区：[1]山东省血液中心,济南250014

出　　处：《山东医药》2020年第9期40-43,共4页Shandong Medical Journal

摘　　要：目的探讨临床罕见的类孟买血型检测鉴定方法,以指导临床输血。方法针对初检ABO血型正反定型结果不符的献血者样本,采用免疫血清学方法鉴定其ABO血型、H抗原、Lea抗原、Leb抗原、弱A抗原、弱B抗原、弱H抗原、不规则抗体。提取献血者血液基因组DNA,鉴定其ABO血型基因型并对FUT1基因进行测序。结果献血者ABO血型正定型反应表现为O型,反定型反应表现为A型,正反定型结果不符;献血者红细胞上未检测到H抗原,Lea抗原阴性、Leb抗原阳性,Lewis血型系统定型为Le(a-b+);献血者红细胞仅吸收放散出抗-A抗体;不规则抗体为抗H抗体。献血者ABO血型基因型为AA型。FUT1基因第四外显子第658位点发生了C碱基突变为T碱基的改变,即c.658 C>T,且该突变为纯合突变。结论发现1例临床罕见的A型类孟买血型;对临床鉴定困难且怀疑为罕见类孟买血型的血液样本,在免疫血清学方法鉴定不能明确的情况下,可进行基因检测明确其血型,指导临床输血。Objective To identify methods for detection of para-Bombay blood group in order to guide clinical blood transfusion.Methods For the blood donors whose ABO blood growp results were not matched in the forward and reverse typing tests,immuno-serological methods were performed to identify the ABO blood group,H antigen,Lea antigen,Leb antigen,and irregular antibody.Besides,the blood genomic DNA was extracted and used to identify the genotypes of ABO blood group,and FUT1 genes were sequenced.Results ABO blood group's positive stereotype response in blood donors was type O,and the negative stereotype response was type A,which were not consistent.The immuno-serological detection results were negative in H antigen,positive in Lea antigen,and positive in Leb antigen,so they were classified as Le(ab+)type according to the erythrocyte Lewis system;irregular antibodies were anti-H antibodies.The donor's ABO blood group genotype was AA.FUTI gene sequencing revealed a homozygous mutation of C>T in exon 658 of FUTI gene,which was expected to lead to the conversion of arginine to cysteine during translation.Under these conditions,it was judged as a para-Bombay blood group type.Conclusions One case of clinically rare type A para-Bombay blood group is found.For the blood samples which are difficult to identify clinically and are suspected to be rare Bombay-like blood groups,genetic detection can be carried out to determine their blood types and guide clinical blood transfusion when immuno-serological identification is not clear.

关 键 词：类孟买血型 ABO血型 FUT1基因 基因测序 罕见血型 

分 类 号：R457.1[医药卫生—治疗学]