A Para-Bombay Blood Group Case Associated with a Novel FUT1 Mutation c.361G>A,Transfusion Medicine and Hemotherapy

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A Para-Bombay Blood Group Case Associated with a Novel FUT1 Mutation c.361G>A
Transfusion Medicine and Hemotherapy ( IF 1.9 ) Pub Date : 2021-01-13 , DOI: 10.1159/000513318
Hang Lei ₁ , Yuqing Shen ₂ , Yuqing Wang ₁ , Naizhu Su ₂ , Xuefeng Wang ₁ , Xiaohong Cai ₁

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Background: Here we report a case of para-Bombay phenotype due to a novel mutation FUT1 c.361G#x3e;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, FUT1and 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#x3e;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 FUT1did 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#x3e;A) was identiﬁed in a Chinese individual with para-Bombay B phenotype. The FUT1c.361G#x3e;A mutation may significantly downregulate the expression of H antigens on RBCs by damaging the enzyme conformation.
Transfus Med Hemother

更新日期：2021-01-13

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