Lab Med Online.  2023 Apr;13(2):97-102. 10.47429/lmo.2023.13.2.97.

Various ABO Genotyping-phenotyping Results for ABO Blood Group Discrepancy: A Retrospective Study

• Lee SJ
• Chae S
• Yoo J
• Jekarl DW
• Lee S
• Kim M
• Kim Y

• KMID: 2552732
• DOI: http://doi.org/10.47429/lmo.2023.13.2.97

Abstract

The ABO system remains the most important blood group classification system in transfusion medicine. ABO serology testing requires both forward and reverse typing as each grouping result validates the other, and ABO discrepancies must be resolved in the clinical laboratory. ABO genotyping has served as an independent tool in accurate blood group determination. This report retrospectively analyzes the ABO grouping results of 47 blood samples from two medical institutions. Various genotype-phenotype results were categorized based on correlations reported by previous investigators, and patients’ medical records were reviewed for conditions that may have affected the results. The frequencies of genotype-phenotype matches and genotype-phenotype mismatches were 72.3% (34/47 cases) and 27.7% (13/47cases), respectively. The Cis-AB alleles (23 cases) were the most prevalent cause of ABO discrepancies. Red cell A or B antigen losses in patients with hematologic disorders, malignancy, and pregnancy were genetically confirmed. A pedigree study revealed a father-son pair with the same genotype showing differing phenotypes, and whole exon sequencing including promoter region revealed a single-point mutation in the promoter region in one of the two patients. By directing sequencing of the full ABO coding region, including the promoter, in the analysis, we aimed to determine the potential regulatory role of a mutation in the promoter region in ABO gene expression.

Keyword

ABO discrepancy; ABO genotyping; Cis-AB; Glycosyltransferase

Figure

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  Fig. 1 Pedigree of the family 1 and 2. Arrow indicates propositus. (A) Pedigree of family 1: ABO phenotypes, genotypes, and transferase results are noted. (B) Pedigree of family 2: ABO phenotypes and genotypes are noted.

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  Fig. 2 Sequencing results of the promoter region of the ABO gene. The arrow indicates the mutation site. (A) Grandfather (p) shows a mutation at -219C>A. (B) Father does not have a mutation.

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