ABO*AW31.02-05 Identified by Genotyping in a Patient with ABO Discrepancy: First Case in Korea
10.17945/kjbt.2026.37.1.1 4
- Author:
Jiye LEE
1
;
Eui Gon KIM
;
Minjeong NAM
;
Duck CHO
Author Information
1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
- Publication Type:Case Report
- From:Korean Journal of Blood Transfusion
2026;37(1):14-18
- CountryRepublic of Korea
- Language:English
-
Abstract:
We report the first identification in Korea of the rare ABO*AW31.02-05 allele in a patient with an ABO discrepancy.Forward ABO typing demonstrated a clear B phenotype, whereas reverse typing showed no agglutination. Molecular analysis revealed an ABO*AW31.02-05/B.01 genotype. In silico prediction using PolyPhen-2 and SIFT indicated that both amino acid substitutions (p.Phe216Ile and p.Val277Met) were deleterious, consistent with markedly reduced A-transferase activity. This case highlights the value of genotyping and in silico prediction in identifying the causative allele and clarifying ABO discrepancies.
