Case 1: Novel FUT1*932A allele linked to para-Bombay A phenotype
Patient information: Discrepancy between ABO forward and reverse typing.
Serological testing
PCR-SBT：ABO genotype: ABO*A1.02/O.01.02. FUT2 was homozygous for functional Se357 (secretor status). FUT1 genotyping revealed heterozygosity for known deletion c.551_552 delAG (FUT101N.06) and novel missense variant c.932G>A.
PacBio HiFi sequencing (HemoSureTM) : The two mutations resided on separate strands. The novel missense variant c.932G>A causes p.Gly311Asp, predicted "disease-causing" and representing a novel molecular basis of the para-Bombay phenotype.
Reference：Shi L, Ma L, Feng C, et. al. Transfusion. 2024 Aug;64(8):E32-E33.
Case 2: Rare p phenotype
Patient information: A 56-year-old Han female with renal malignancy had no blood transfusion history, and ABO forward-reverse typing discrepancy during preoperative blood preparation.
Serological testing
PCR-SBT: c.343A>T and c.903C>G mutations in the coding region of the A4GALT gene.
PacBio HiFi sequencing (HemoSureTM) : A4GALT harbored homozygous mutations rs5751348:G>T (linked to P2 phenotype), c.343A>T (may cause truncated p.Lys115Ter, 115 aa), and c.903C>G (synonymous). Patient RBCs were confirmed as P-, P1-, and Pk-.
Reference：Wei X, Xiang D, Fan L, et. al. Transfus Med. 2025 Aug;35(4):359-365.
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