AW.37/B.01亚型孕妇家系调查及新生儿血型鉴定探讨

Pedigree of a pregnant woman with rare AW.37/B.01 subtypes and the identification of neonatal blood type

目的通过鉴定1例患者及其家系成员的ABO疑难血型并制定合理的输血策略,探讨新生儿ABO血型正定型检测的准确性。方法血型血清学方法鉴定ABO血型表型,利用分子生物学方法进行ABO基因分型检测,通过测序确定家系成员ABO血型基因型。结果先证者血清学ABO血型正反定型不一致,血清学检测格局为A_亚B,ABO基因测序发现ABO~*A1.01等位基因第7外显子940位碱基发生A>G变异,导致314位赖氨酸被谷氨酸替换,该患者ABO血型的基因型为ABO~*AW.37/B.01;其父血清型格局为A_亚,基因型为ABO~*AW.37/O.01.02。结论AW.37等位基因可在人群中稳定遗传,并可能影响新生儿血型鉴定。

Objective To explore the accuracy of forward ABO blood typing in newborns by identifying the ABO blood type of a patient and her family members,as well as to formulate a reasonable blood transfusion strategy.Methods The ABO phenotypes of family members were analyzed serologically,and then subjected to genetic sequencing to determine the genotype of ABO blood group.Results The discrepancies between forward and reverse blood grouping of the proband were found,suggesting the phenotype as AsubB.ABO gene sequencing revealed a A>G variation at position 940 in exon 7 of the ABO*A1.01 allele,resulting in a Lys to Glu substitution at codon 314.The ABO genotype of the proband was ABO*AW.37/B.01.The paternal ABO phenotype was A subtype and genotype was ABO*AW.37/O.01.02.Conclusion The AW.37 allele can be stably inherited and may affect the blood group identification of newborns.