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

Yazer, Mark H.; Hosseini Maaf, Bahram LU and Olsson, Martin L LU (2008) In Current Opinion in Hematology 15(6). p.618-624
Abstract
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
O, nondeletional, genotype, ABO, allele, O-2, phenotype
in
Current Opinion in Hematology
volume
15
issue
6
pages
618 - 624
external identifiers
  • wos:000260353200011
  • scopus:55149091094
ISSN
1531-7048
DOI
10.1097/MOH.0b013e3283127062
language
English
LU publication?
yes
id
a2029fbc-303e-485d-b952-74e73213a198 (old id 1284758)
date added to LUP
2009-02-09 09:29:04
date last changed
2017-07-23 04:05:31
@article{a2029fbc-303e-485d-b952-74e73213a198,
  abstract     = {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.},
  author       = {Yazer, Mark H. and Hosseini Maaf, Bahram and Olsson, Martin L},
  issn         = {1531-7048},
  keyword      = {O,nondeletional,genotype,ABO,allele,O-2,phenotype},
  language     = {eng},
  number       = {6},
  pages        = {618--624},
  series       = {Current Opinion in Hematology},
  title        = {Blood grouping discrepancies between ABO genotype and phenotype caused by O alleles},
  url          = {http://dx.doi.org/10.1097/MOH.0b013e3283127062},
  volume       = {15},
  year         = {2008},
}