Ann Lab Med.  2025 Sep;45(5):539-544. 10.3343/alm.2024.0573.

Utility of ABO Genotyping by Integrating the ABO Gene into Diagnostic Gene Panels for Patients with Hematologic Malignancies

• Park YM
• Kwon GC
• Kim SY

• KMID: 2571705
• DOI: http://doi.org/10.3343/alm.2024.0573

Abstract

Serologic ABO typing might be hampered in some patients with hematologic malignancies. We performed ABO genotyping using next-generation sequencing as part of a routine hematologic malignancy gene panel to determine the ABO blood type of patients with hematologic malignancies. Targeted sequencing of seven ABO gene exons was performed within a hematologic malignancy gene panel for 520 patients diagnosed with various hematologic malignancies. The distribution of predicted ABO blood phenotypes determined through genotyping was as follows: 33.3% A, 27.3% B, 26.7% O, and 12.7% AB. No significant associations were identified between ABO allele distributions and specific hematologic malignancy diagnoses. We compared the phenotypes predicted using ABO genotyping with serological ABO testing results in 502 samples where serological data were available. All genotyping-based phenotypes were accurate, with 99.8% (501/502) of initial serological results aligning with the true phenotypes. Unusual serological results were observed in 21 samples (4.2%). The percentages of recipient cells containing ABO allele variants indicated chimerism in relapsed patients who had undergone ABO-mismatched transplantation. Thus, incorporating ABO genotyping into the hematology gene panel provides valuable information offering a cost-effective approach to address challenges in blood typing and post-transplant care.

Keyword

ABO genotyping; Allele distribution; Next-generation sequencing

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