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Identification of a novel A allele with initiator codon variant (c.2T > A) in the ABO gene associated with weak A phenotype

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Antigens in the ABO blood group play an important role in the fields of transfusion medicine and organ transplantation because of its strong immunogenicity. However, the phenotype discrepancies in the… Click to show full abstract

Antigens in the ABO blood group play an important role in the fields of transfusion medicine and organ transplantation because of its strong immunogenicity. However, the phenotype discrepancies in the ABO variants usually affect the accuracy of the ABO typing. Most of the variants were caused by the variations existed in exon 6 and 7 of the ABO gene, however, some cases were due to the variations in the other regions. Here, we reported a novel A allele with a point mutation (c.2T > A) at the start codon of exon 1 in a blood donor, which was associated with a weak A phenotype.

Keywords: weak phenotype; associated weak; novel allele; abo gene

Journal Title: Transfusion
Year Published: 2023

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