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KMID : 1100820230130020097
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Laboratory Medicine Online
2023 Volume.13 No. 2 p.97 ~ p.102
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Various ABO Genotyping-phenotyping Results for ABO Blood Group Discrepancy: A Retrospective Study
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Lee Soo-Jung
chae Seung-Wan
Yoo Jae-Eun
Jekarl Dong-Wook l
eungok Lee,
Kim Myung-Shin
Kim Yong-Goo
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Abstract
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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.
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KEYWORD
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ABO discrepancy, ABO genotyping, Cis-AB, Glycosyltransferase
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