Vox sanguinis · 2026
A novel FUT1 variant, c.[35C>T;133_136dupCGCC], underlies a group A para-Bombay phenotype in a Chinese blood donor.
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Hou Jue, Chen Xue, Zhang Xuemei, Yang Jianying, Li Ying
Аннотация
BACKGROUND AND OBJECTIVES: The para-Bombay phenotype is characterized by H antigen deficiency and the natural production of antibody against the I and H antigens (anti-IH), some of which are occasionally clinically significant. It genetically results from the presence of two non-functional FUT1 alleles coupled with at least one functional FUT2 allele. We present the serological and molecular characterization of a para-Bombay phenotype case, which led to the identification of a novel FUT1 allele.
MATERIALS AND METHODS: A sample from a blood donor was identified as a result of a discrepancy between forward and reverse typing. This sample subsequently underwent serological typing for A, B and H antigens in accordance with the American Association of Blood Banks Technical Manual. Furthermore, Sanger sequencing and nanopore sequencing were employed to analyse the ABO, FUT1 and FUT2 genes.
RESULTS: The donor was found to have an H-deficient phenotype and the presence of anti-IH. Sanger sequencing identified an ABO*A1.01/ABO*O.01.02 genotype. Nanopore sequencing showed a compound heterozygous state in FUT1, represented by the FUT1*01W.09 allele and a novel FUT1 allele carrying the c.[35C>T;133_136dupCGCC] variant. The FUT2 genotype was determined as FUT2*01/FUT2*01W.02.01.
CONCLUSION: This study identifies a novel FUT1 allele characterized by the c.[35C>T;133_136dupCGCC] variant that impairs H antigen expression on red blood cells, thereby contributing to the understanding of FUT1 allele diversity.
MATERIALS AND METHODS: A sample from a blood donor was identified as a result of a discrepancy between forward and reverse typing. This sample subsequently underwent serological typing for A, B and H antigens in accordance with the American Association of Blood Banks Technical Manual. Furthermore, Sanger sequencing and nanopore sequencing were employed to analyse the ABO, FUT1 and FUT2 genes.
RESULTS: The donor was found to have an H-deficient phenotype and the presence of anti-IH. Sanger sequencing identified an ABO*A1.01/ABO*O.01.02 genotype. Nanopore sequencing showed a compound heterozygous state in FUT1, represented by the FUT1*01W.09 allele and a novel FUT1 allele carrying the c.[35C>T;133_136dupCGCC] variant. The FUT2 genotype was determined as FUT2*01/FUT2*01W.02.01.
CONCLUSION: This study identifies a novel FUT1 allele characterized by the c.[35C>T;133_136dupCGCC] variant that impairs H antigen expression on red blood cells, thereby contributing to the understanding of FUT1 allele diversity.