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

Yaozong He, Yanjun Lu, Houquan Zhou, Yuhua Lyu, Sijing Liu, Yunlong Gao, Yan Chao, Xinzhong Wu, Zheng Liang

Clinical laboratory 2021 Oct 01

filter terms:

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.

Citation

Yaozong He, Yanjun Lu, Houquan Zhou, Yuhua Lyu, Sijing Liu, Yunlong Gao, Yan Chao, Xinzhong Wu, Zheng Liang. Homozygous FUT1 Mutations Causing a Para-Bombay Phenotype: a Pedigree Investigation Report. Clinical laboratory. 2021 Oct 01;67(10)