Ann Lab Med.  2019 Mar;39(2):115-120. 10.3343/alm.2019.39.2.115.

Cis-AB, the Blood Group of Many Faces, Is a Conundrum to the Novice Eye

• Chun S
• Choi S
• Yu H
• Cho D

• KMID: 2425965
• DOI: http://doi.org/10.3343/alm.2019.39.2.115

Abstract

Cis-AB, a rare ABO variant, is caused by a gene mutation that results in a single glycosyltransferase enzyme with dual A and B glycosyltransferase activities. It is the most frequent ABO subgroup in Korea, and it occurs more frequently in the East Asian region than in the rest of the world. The typical phenotype of cis-AB is A₂B₃, but it can express various phenotypes when paired with an A or B allele, which can lead to misclassification in the ABO grouping and consequently to adverse hemolytic transfusion reactions. While cis-AB was first discovered as having an unusual inheritance pattern, it was later found that both A and B antigens are expressed from the same allele inherited from a single parent; hence, the name cis-AB. Earlier studies relied on serological and familial investigation of cis-AB subjects, but its detection has become much easier with the introduction of molecular methods. This review will summarize the serological variety, genetic basis and inheritance pattern, laboratory methods of investigation, clinical significance, and the blood type of choice for transfusion for the cis-AB blood group.

Keyword

ABO; cis-AB; Genotyping; Serology

MeSH Terms

Alleles
Asian Continental Ancestry Group
Genes, vif
Humans
Inheritance Patterns
Korea
Phenotype
Single Parent
Transfusion Reaction

Figure

• 

  Fig. 1 Three representative Korean cis-AB family cases illustrating cis-AB inheritance of the ABO blood group depending on the mother's genotype (O/O; Family 1, A/O; Family 2, and B/O; Family 3). The ABO phenotype and genotype of each person are shown.

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