Molecular analysis and transfusion management in a rare case of cis-AB blood group: A report from India

Abstract

Molecular characterization of a rare cis-AB blood group has not been done in the Indian subcontinent. Herein, we report a case of A₂B₃ blood group in an Indian patient which was subsequently confirmed to be a case of cis-AB phenotype. Blood grouping was performed by the column agglutination technique (CAT), conventional tube technique (CTT) and subsequently, whole exome sequencing for molecular analysis. The patient was initially typed as AB, RhD positive in forward grouping. However, serum grouping showed agglutination (2+) with the B red cells in CAT. In CTT, an extra reaction was observed with A₁ red cells and a strong agglutination was seen with Anti-H lectin. Thus, the blood group was identified serologically as A₂B₃. During the next-generation sequencing, a total of 10 exonic variants in the ABO gene were filtered, of which 2 (rs8176747 and rs7853989) were found to be non-synonymous and occurring on the same allele. The other allele was found to be ABO*A1.01. The sample analyzed in the study was found to carry two previously reported nucleotide changes of cis-AB (c.803G > C and c.526C > G) on the same allele which had not been reported before. Transfusion requirement was managed with type O red cells and type AB plasma.

Keywords: ABO; Cis-AB; Sequencing; Serology; Transfusion management.