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A new missense variant in exon 7 of the ABO gene, c.662G>A, in a family with Bw phenotype

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Weak expression of ABO antigens is encountered in the clinical laboratory occasionally, and subgroups of A are more commonly observed in Europeans than subgroups of B. To date, weakly expressing… Click to show full abstract

Weak expression of ABO antigens is encountered in the clinical laboratory occasionally, and subgroups of A are more commonly observed in Europeans than subgroups of B. To date, weakly expressing B variant phenotypes have been associated with 38 different alleles according to ISBT (https://www.isbtweb.org/resource/001aboalleles.html). This number is an underrepresentation since there have been several reports of aberrant B expression due to variant alleles since the last update of the ISBT allele table. The current study was initiated by an unusual blood group typing result in a 55-year-old male patient of Czech origin and previously reported as an abstract.

Keywords: missense variant; variant exon; variant; new missense; exon abo; abo gene

Journal Title: Transfusion
Year Published: 2022

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