Analysis of Serological and Molecular Biological Characteristics in a Ael.04 Subtype Patient Carrying c.374+5G>A Combined with c.467C>T Gene Mutations

doi:10.3969/j.issn.1671-2587.2026.01.021

JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE ›› 2026, Vol. 28 ›› Issue (1): 136-140.DOI: 10.3969/j.issn.1671-2587.2026.01.021

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Analysis of Serological and Molecular Biological Characteristics in a Ael.04 Subtype Patient Carrying c.374+5G>A Combined with c.467C>T Gene Mutations

RUAN Shijie^1,2, TAN Manyu², XIONG Yan², WU Changlin^1,3

¹Guangdong Medical University, Zhanjiang 524023;
²Department of Blood Transfusion, Huizhou Central People's Hospital, Huizhou 516001;
³Department of Blood Transfusion, Shenzhen Second People's Hospital, Shenzhen 518035

Received:2025-06-11 Published:2026-02-13

Abstract

Abstract: Objective To investigate a case of ABO difficult blood group patient for serological and molecular biological characteristics, and provide transfusion recommendations for the clinical transfusion in the patients. Methods The ABO blood group was identified by serological method, further serological detection was conducted by absorption-elution test, and the ABO gene sequence was analyzed by gene sequencing technology. Results The patient's ABO serological test showed inconsistent in forward and reverse typing; weak A antigen was detected by absorption-elution test; gene sequencing revealed that it carried the c.374+5G>A gene mutation, and the c.374+5G>A combined with c.467C>T gene mutations were found for the first time in the ISBT database. Conclusion Gene sequencing technology helped to elucidate the molecular biological basis of difficult blood groups, and provided evidence-based significant value for transfusion safety and the implementation of precision transfusion.

Key words: ABO difficult blood group, Gene sequencing, ABO*AEL.04 genotype

CLC Number:

R457.1

RUAN Shijie, TAN Manyu, XIONG Yan, WU Changlin. Analysis of Serological and Molecular Biological Characteristics in a Ael.04 Subtype Patient Carrying c.374+5G>A Combined with c.467C>T Gene Mutations[J]. JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE, 2026, 28(1): 136-140.

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Analysis of Serological and Molecular Biological Characteristics in a Ael.04 Subtype Patient Carrying c.374+5G>A Combined with c.467C>T Gene Mutations

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