Open AccessA Para-Bombay Blood Group Case Associated with a Novel FUT1 Mutation c.361G>A
Author(s) -
Lei Hang,
Shen Yuqing,
Wang Yuqing,
Su Naizhu,
Wang Xuefeng,
Cai Xiaohong
Publication year - 2021
Publication title -
transfusion medicine and hemotherapy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.971
H-Index - 39
eISSN - 1660-3818
pISSN - 1660-3796
DOI - 10.1159/000513318
Subject(s) - case report
Background: Here we report a case of para-Bombay phenotype due to a novel mutation FUT1 c.361G>A p.(Ala121Thr) and a nonfunctional allele FUT1 * 01N.13 (c.881_882delTT) which showed a discrepancy in the routine ABO blood group typing. Materials and Methods: The ABO phenotype and the Lewis blood group were typed with serological methods. The ABH antigens in saliva were determined by a hemagglutination inhibition test. The CDS region of ABO, FUT1 and FUT2 were amplified with polymerase chain reaction and then directly sequenced. The novel mutation was confirmed by cloning and sequencing. Three-dimensional (3-D) structural analysis of the mutant and wild-type Fut1 were performed by the Chimera software. Results: A, B and H antigens were not detected on the surface of red blood cells (RBCs) by the serological technique, and the B and H blood group substances were detected in the saliva, while the Lewis phenotype was Le(a–b+). Sequencing and cloning analysis showed the presence of a novel FUT1 mutation c.361G>A and a nonfunctional allele FUT1 * 01N.13 (c.881_882delTT). The ABO genotype was ABO * B.01/ABO * O.01.01 . The in silico analysis showed that the mutation p.(Ala121Thr) of FUT1 did not change the 3-D structure of the whole enzyme but caused a certain amplitude of turnover in the loop region where Ala121 was located. Conclusions: A novel FUT1 allele ( FUT1 *c.361G>A) was identied in a Chinese individual with para-Bombay B phenotype. The FUT1 c.361G>A mutation may significantly downregulate the expression of H antigens on RBCs by damaging the enzyme conformation.