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

Serologic ABO typing might be hampered in some patients with hematologic malignancies. We performed <i>ABO</i> 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 <i>ABO</i> 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 <i>ABO</i> allele distributions and specific hematologic malignancy diagnoses. We compared the phenotypes predicted using <i>ABO</i> 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 <i>ABO</i> allele variants indicated chimerism in relapsed patients who had undergone ABO-mismatched transplantation. Thus, incorporating <i>ABO</i> genotyping into the hematology gene panel provides valuable information offering a cost-effective approach to address challenges in blood typing and post-transplant care.