{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:06:04Z","timestamp":1747188364112,"version":"3.40.5"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,10,26]],"date-time":"2020-10-26T00:00:00Z","timestamp":1603670400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Transfusion Medicine"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Background<\/jats:title><jats:p>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 <jats:italic>ABO<\/jats:italic> gene. Genetic variants of <jats:italic>ABO<\/jats:italic> may encode a glycosyltransferase with reduced activity, leading to weak expression of A antigen.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Both individuals were serologically determined to be A<jats:sub>weak<\/jats:sub>B. Genetic testing revealed that both were heterozygous for a novel <jats:italic>ABO*A1.01<\/jats:italic>\u2010like allele with an in\u2010frame 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In summary, we describe a novel <jats:italic>A<\/jats:italic> 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)<\/jats:p><\/jats:sec>","DOI":"10.1111\/tme.12730","type":"journal-article","created":{"date-parts":[[2020,10,26]],"date-time":"2020-10-26T08:45:44Z","timestamp":1603701944000},"page":"508-512","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel <scp><i>ABO<\/i><\/scp> allele with a 21\u2010bp duplication identified in two unrelated European individuals with weak A expression"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2352-9276","authenticated-orcid":false,"given":"Marianne A.","family":"Jakobsen","sequence":"first","affiliation":[{"name":"Department of Clinical Immunology Odense University Hospital  Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2503-7016","authenticated-orcid":false,"given":"Annika K.","family":"Hult","sequence":"additional","affiliation":[{"name":"Clinical Immunology and 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