罕见Ael亚型的鉴定及探讨

Identification of a rare Ael subtype

目的 鉴定与分析1例正反定型不符的ABO血型,为临床疑难血型的鉴定提供参考案例。 方法 采用血型血清学的方法进行ABO、Rh血型、吸收放散试验及基因测序,对1例疑难血型做出准确鉴定。 结果 该患者血液标本经吸收放散试验及分子生物学方法进一步鉴定,确定患者血型为Ael亚型,ISBT命名为 ABO *AEL.05/ABO *O.01.01;经家系调查其次子与先证者拥有同一特征性突变位点,ISBT命名为 ABO *AEL.05/ABO *B.01.01 。 结论 联合应用多种血型血清学试验及分子生物学试验有助于对ABO亚型的鉴定,为临床输血的安全性、科学性、合理性提供保障。

Objective To identify and analyze a case of ABO discrepancy between forward and reverse blood grouping,and to provide reference for the identification of ambiguous blood group in clinical.Methods ABO and Rh blood group typing,absorption and elution test,and gene sequencing were performed to confirm the ambiguous blood group.Results The sample was identified by absorption and elution test and molecular biological method to be Ael subtype,and was named ABO*AEL.05/ABO*O.01.01 by ISBT.After family investigation,the proband and her second son share the same characteristic mutation site,and was named ABO*AEL.05/ABO*B.01.01 by ISBT.Conclusion Multiple blood group serological tests and molecular biology tests help to identify ABO subtypes,thus assuring the safety,scientificity and rationality of clinical blood transfusion.