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A novel ABO allele with a 21-bp duplication identified in two unrelated European individuals with weak A expression

Jakobsen, Marianne A. ; Hult, Annika K. LU ; Hellberg, Åsa LU ; Crottet, Sofia Lejon ; Sprogøe, Ulrik and Olsson, Martin L. LU orcid (2020) In Transfusion Medicine 30(6). p.508-512
Abstract

Objectives: To carry out genetic and serological analyses of a Swiss blood donor and a Danish patient carrying an aberrant ABO phenotype with weak A expression. Background: ABO is the most clinically important blood group system but also one of the most complex. The system antigens are determined by carbohydrate structures generated by A and B glycosyltransferases encoded by the ABO gene. Genetic variants of ABO may encode a glycosyltransferase with reduced activity, leading to weak expression of A antigen. Methods: Samples from two individuals were examined using genetic testing and extended immunohaematological evaluation, including standard serological methods, flow cytometry and analysis of plasma glycosyltransferase activity.... (More)

Objectives: To carry out genetic and serological analyses of a Swiss blood donor and a Danish patient carrying an aberrant ABO phenotype with weak A expression. Background: ABO is the most clinically important blood group system but also one of the most complex. The system antigens are determined by carbohydrate structures generated by A and B glycosyltransferases encoded by the ABO gene. Genetic variants of ABO may encode a glycosyltransferase with reduced activity, leading to weak expression of A antigen. Methods: Samples from two individuals were examined using genetic testing and extended immunohaematological evaluation, including standard serological methods, flow cytometry and analysis of plasma glycosyltransferase activity. Results: Both individuals were serologically determined to be AweakB. Genetic testing revealed that both were heterozygous for a novel ABO*A1.01-like allele with an in-frame duplication of 21 nucleotides in exon 7 (c.543_563dup), leading to the insertion of seven amino acids (QDVSMRR). Flow cytometric testing of native red blood cells (RBCs) showed very weak A antigen expression. This was in accordance with the enzyme activity test. Conclusion: In summary, we describe a novel A allele with a duplication of 21 nucleotides in exon 7 that significantly decreases the enzyme activity and leads to very weak expression of A antigen. (200 words).

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author
; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
ABO, blood group variant, weak A allele
in
Transfusion Medicine
volume
30
issue
6
pages
5 pages
publisher
Wiley-Blackwell
external identifiers
  • scopus:85093681838
  • pmid:33103288
ISSN
0958-7578
DOI
10.1111/tme.12730
language
English
LU publication?
yes
id
536394d0-b8b9-42ab-8637-e6fa9d335e7e
date added to LUP
2020-11-12 07:28:10
date last changed
2024-01-02 22:02:07
@article{536394d0-b8b9-42ab-8637-e6fa9d335e7e,
  abstract     = {{<p>Objectives: To carry out genetic and serological analyses of a Swiss blood donor and a Danish patient carrying an aberrant ABO phenotype with weak A expression. Background: ABO is the most clinically important blood group system but also one of the most complex. The system antigens are determined by carbohydrate structures generated by A and B glycosyltransferases encoded by the ABO gene. Genetic variants of ABO may encode a glycosyltransferase with reduced activity, leading to weak expression of A antigen. Methods: Samples from two individuals were examined using genetic testing and extended immunohaematological evaluation, including standard serological methods, flow cytometry and analysis of plasma glycosyltransferase activity. Results: Both individuals were serologically determined to be A<sub>weak</sub>B. Genetic testing revealed that both were heterozygous for a novel ABO*A1.01-like allele with an in-frame duplication of 21 nucleotides in exon 7 (c.543_563dup), leading to the insertion of seven amino acids (QDVSMRR). Flow cytometric testing of native red blood cells (RBCs) showed very weak A antigen expression. This was in accordance with the enzyme activity test. Conclusion: In summary, we describe a novel A allele with a duplication of 21 nucleotides in exon 7 that significantly decreases the enzyme activity and leads to very weak expression of A antigen. (200 words).</p>}},
  author       = {{Jakobsen, Marianne A. and Hult, Annika K. and Hellberg, Åsa and Crottet, Sofia Lejon and Sprogøe, Ulrik and Olsson, Martin L.}},
  issn         = {{0958-7578}},
  keywords     = {{ABO; blood group variant; weak A allele}},
  language     = {{eng}},
  number       = {{6}},
  pages        = {{508--512}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{Transfusion Medicine}},
  title        = {{A novel ABO allele with a 21-bp duplication identified in two unrelated European individuals with weak A expression}},
  url          = {{http://dx.doi.org/10.1111/tme.12730}},
  doi          = {{10.1111/tme.12730}},
  volume       = {{30}},
  year         = {{2020}},
}