Homozygous FUT1 Mutations Causing a Para-Bombay Phenotype: a Pedigree Investigation Report

Para-Bombay phenotype is rare in ABO blood group. We describe FUT1 mutations in a Chinese woman with the para-Bombay phenotype, including her familial inheritance.

ABO grouping, H antigen detection, absorptionelution test, salivary antigen substance detection, deter-mination of titer of ABH antibody, ABO genotyping, gene sequencing (FUT1,2), blood transfusion compatibility test, and pedigree investigation were performed.

The patient was confirmed as group A1 para-Bombay phenotype (Amh) in her family's investigation, revealing her FUT1 gene had c.658C>T (p.Arg220Cys) homozygous mutation and FUT2 gene had c.357C>T homozygous mutation. The patient was provided an appropriate transfusion solution.

A combination of using classical serological methods, gene sequencing methods and pedigree investigation methods can effectively analyze the genetic inheritance of patients with para-Bombay phenotype, increasing their choices of blood transfusion.