摘要
目的:分析类孟买血型血清学特点及FUT1和FUT2基因序列,探讨其分子机制和后续输血方案。方法:收集2019年1月—2023年12月发现的6例疑似类孟买血型者,采用常规盐水试管法进行ABO正反定型和H抗原检测,采用吸收放散试验检测弱A、弱B抗原,基因分型采用PCR-SBT法,基因测序采用Sanger法;交叉配血采用凝聚胺法。结果:6例均为类孟买血型,其中2例为Amh、4例为Bmh。FUT1基因型:3例为c.551-552delAG,1例为c.551-552delAG/c.881-882delTT,1例为c.551-552delAG/c.755 G>C,1例为c.551-552delAG/c.658 C>T;FUT2基因型:5例为c.357 C>T,1例为c.716 G>A。在室温和37℃下采用血清分别与A型、B型、O型悬浮红细胞进行交叉配血试验,显示室温下例1、例2、例4交叉配血不相合,37℃下交叉配血均相合。结论:分子诊断准确鉴定类孟买血型,对后续输血方案制定具有重要临床意义。
Objective:To analyze the serological characteristics and FUT1 and FUT2 sequences of Para-Bombay Blood Type individuals,and explore its molecular mechanism and transfusion scheme.Methods:Six suspected para-Bombay phenotype individuals found from January 2019 to December 2023 were collected.ABO positive and negative typing and H antigen were detected by conventional saline tube method,weak A and weak B antigens were detected by absorption and emission test,genotyping was performed by PCR-SBT method,and gene sequencing was performed by Sanger detection technology.Results:Six individuals were all para-Bombay blood group,including 2 cases of Am~h and 4 cases of Bm~h.FUT1 genotype:3 cases of c.551-552delAG,1 case of c.551-552delAG/c.881-882delTT,1 case of c.551-552delAG/c.755 G>C,and 1 case of c.551-552delAG/c.658 C>T;FUT2 genotype:5 cases of c.357 C>T,and 1 case of c.716 G>A.Conclusion:Molecular diagnosis can accurately identify para-Bombay blood group,and special transfusion scheme can ensure safe blood transfusion.
作者
王秀娣
乐亮
朱碎永
林甲进
WANG Xiudi;LE Liang;ZHU Suiyong;LIN Jiajin(Department of Blood Transfusion,the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University,Wenzhou,325027,China)
出处
《临床血液学杂志》
2024年第12期901-904,共4页
Journal of Clinical Hematology
基金
温州市科技局科研项目(No:Y20210732)
贺林院士工作站科研基金项目(No:18331104)。
