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Blood grouping discrepancies between ABO genotype and phenotype caused by O alleles

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Author

Summary, in English

Purpose of review In the modern transfusion service, analysis of the ABO allele underlying a donor or recipient's A or B subtype phenotype is becoming a mainstream adjunct to the serological investigation. Although an analysis of the ABO gene can be helpful in establishing the nature of the subtype phenotype, numerous confounding factors exist that can lead to a discrepancy between the genotype and the observed phenotype. Recent findings Although the most common group O alleles share a common crippling polymorphism, a growing number of alleles feature other polymorphisms that render their protein nonfunctional yet are similar enough to the consensus A allele that an errant phenotype would be predicted from the genotype, if the genotyping method was not specifically designed for their detection. Some of these O alleles might actually encode a protein with weak and variable A antigen synthetic ability. Summary ABO genotyping can be a powerful asset in the transfusion service, but a thorough knowledge of the confounding factors that can lead to genotype/phenotype discrepancies is required.

Publishing year

2008

Language

English

Pages

618-624

Publication/Series

Current Opinion in Hematology

Volume

15

Issue

6

Document type

Journal article

Publisher

Lippincott Williams & Wilkins

Topic

  • Hematology

Keywords

  • O
  • nondeletional
  • genotype
  • ABO
  • allele
  • O-2
  • phenotype

Status

Published

Research group

  • Transfusion Medicine

ISBN/ISSN/Other

  • ISSN: 1531-7048