Volume 4 Issue 2
Dec.  2020
Turn off MathJax
Article Contents
Zelan Gu, Chun Li, Hua Lu. B para-Bombay phenotype in China caused by homozygous mutation for site 328 G > A of FUT1 gene: a case report[J]. Blood&Genomics, 2020, 4(2): 156-158. doi: 10.46701/BG.2020022020116
Citation: Zelan Gu, Chun Li, Hua Lu. B para-Bombay phenotype in China caused by homozygous mutation for site 328 G > A of FUT1 gene: a case report[J]. Blood&Genomics, 2020, 4(2): 156-158. doi: 10.46701/BG.2020022020116

B para-Bombay phenotype in China caused by homozygous mutation for site 328 G > A of FUT1 gene: a case report

doi: 10.46701/BG.2020022020116
More Information
  • Corresponding author: Hua Lu, Department of Blood Transfusion, the Second Affiliated Hospital of Chongqing Medical University, 74 Linjiang Road, Yu Zhong District, Chongqing 400010, China. E-mail: 1580509532@qq.com
  • Received Date: 2020-08-04
  • Accepted Date: 2020-09-14
  • Rev Recd Date: 2020-08-24
  • Available Online: 2021-07-01
  • Publish Date: 2020-12-30
  • The aim of this paper is to accurately identify a case of B para-Bombay and to analyze the genetic mutation. ABO and Lewis blood groups were identified by standard serological methods, and trace antigens on RBCs were detected by adsorption-elution test, while blood group substances in the saliva were detected by agglutination inhibition test. The ABO gene exons 6-7, FUT1 gene exon 4 and FUT2 gene exon 2 were directly sequenced. Serological results showed that there were B antigens on RBCs without H antigens, anti-A and anti-HI antibodies in serum, and B and H blood group substances in the saliva. The Lewis phenotype was Le (a-b+). According to gene sequencing analysis, ABO, FUT1 and FUT2 genotypes were B101/O02, h328G/Ah328G/A and Se357C/TSe357C/T, respectively. This rare phenotype can be mislabeled as "O" if any of the detailed investigations are not performed. Therefore, in order to ensure the safety of blood transfusion, genetic and serological tests are necessary for the correct identification of difficult blood groups.


  • Conflict of interests: All the authors claim no conflict of interest.
  • loading
  • [1]
    Rouquier S, Lowe JB, Kelly RJ, et al. Molecular cloning of a human genomic region containing the H blood group alpha (1, 2) fucosyltransferase gene and two H locusre-lated DNA restriction fragments. Isolation of a candidate for the human Secretor blood group locus[J]. J Biol Chem, 1995, 270(9): 4632-4639. http://www.ncbi.nlm.nih.gov/pubmed/7876234
    Koda Y, Soejima M, Kimura H. Structure and expression of H-type GDP-L-fucose: β-D-galactoside 2-α-L-fucosyltransferase gene (FUT1) [J]. J Biol Chem, 1997, 272: 7501-7505. doi: 10.1074/jbc.272.11.7501
    Koda Y, Soejima M, Wang B, et al. Structure and expression of the gene encoding 2-α-L-fucosyltransferase gene(FUT2) [J]. Eur J Biochem, 1997, 246: 750-755. doi: 10.1111/j.1432-1033.1997.t01-1-00750.x
    Matzhold EM, Wagner T, Drexler C, et al. aberrant ABO B phenotype with irregular Anti-B caused by a Para-Bom-bay FUT1 mutation[J]. Transfus Med Hemother, 2020, 47(1): 94-97. doi: 10.1159/000499724
    Li XL, Su RR, Zhang Y, et al. Serological and gene sequencing analysis of a case of para-Bombay phenotype Amh[J]. Blood and Genomics, 2020, 4(1): 71-74. doi: 10.46701/BG.2020012020104
    Lin-Chu M, Broadberry RE, Tsai SJ, et al. The para-Bombay phenotype in Chinese persons[J]. Transfusion, 1987, 27(5): 388-390. doi: 10.1046/j.1537-2995.1987.27587320529.x
    Geng W, Gao H, Liu P, et al. Serological and molecular analysis of a case with para-Bombay phenotype caused by a h(328)(nt328G to A) mutation[J]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2017, 34(3): 435-437.
    Chen FW, Xie HH, Yang XJ, et al. Molecular and genetic mechanism of three cases of Para-Bombay blood group [J]. Zhongguo Shi Yan Xue Ye Xue Za Zhi (in Chinese), 2017, 25(6): 1793-1798. http://europepmc.org/abstract/MED/29262918
    Song M, Zhao S, Jiang T, et al. A very rare case with particular h-deficient phenotypes[J]. Indian J Hematol Blood Transfus, 2018, 34(4): 788-791. doi: 10.1007/s12288-018-0915-3
    Kim MS, Kim JS, Park H, et al. The first case of Para-Bombay blood type encountered in a korean tertiary hospital[J]. J Korean Med Sci, 2019, 34(39): e258. doi: 10.3346/jkms.2019.34.e258
    Luo G, Wei L, Wang Z, et al. The summary of FUT1 and FUT2 genotyping analysis in Chinese para-Bombay individuals including additional nine probands from Guangzhou in China[J]. Transfusion, 2013, 53(12): 3224-3229. http://smartsearch.nstl.gov.cn/paper_detail.html?id=7bc2b96ada4738f932e8cfd720ecc417
    Lin J, Chen R, Zhu S, et al. Sequence analysis of α-(1, 2)-fucosyltransferase gene in nine Chinese individuals with Para-Bombay phenotype[J]. Gene, 2019, 685: 21-23. http://www.ncbi.nlm.nih.gov/pubmed/30217757
    Chen DP, Tseng CP, Wang WT, et al. Two prevalent h alleles in para-Bombay haplotypes among 250 000 Taiwanese[J]. Ann Clin Lab Sci, 2004, 34(3): 314-318. http://europepmc.org/abstract/MED/15487706
    Lin M, Broadberry RE. Modification of standard western pretransfusion testing procedures for Taiwan[J]. Vox Sang, 1994, 67(2): 199-202. http://www.karger.com/Article/FullText/462590
    Mak KH, Lubenko A, Greenwell P, et al. Serologic characteristics of H-deficient phenotypes among Chinese in Hong Kong[J]. Transfusion, 1996, 36(11/12): 994-999. http://www.ncbi.nlm.nih.gov/pubmed/8937411
    Chi Q, Tang W, Wang CQ, et al. Molecular genetics analysis and frequency survey of -H deficient phenotype[J]. Chin J Blood Transfusion (in Chinese), 2006, 19: 445-448. http://en.cnki.com.cn/Article_en/CJFDTOTAL-BLOO200606003.htm
    Fang CJ, Wang QG, Wang X, et al. Investigation of para-Bombay phenotype in blood donors from Yunan Lahu nationality[J]. Chin J Blood Transfusion (in Chinese), 2011, 24(2): 134-136.
    Ibanez C, Habibi A, Mekontso-Dessap A, et al. Anti-HI can cause a severe delayed hemolytic transfusion reaction with hyperhemolysis in sickle cell disease patients[J]. Transfusion, 2016, 56(7): 1828-1833. http://www.ncbi.nlm.nih.gov/pubmed/27145018
  • 加载中


    通讯作者: 陈斌, bchen63@163.com
    • 1. 

      沈阳化工大学材料科学与工程学院 沈阳 110142

    1. 本站搜索
    2. 百度学术搜索
    3. 万方数据库搜索
    4. CNKI搜索

    Figures(1)  / Tables(2)

    Article Metrics

    Article views (24) PDF downloads(2) Cited by()
    Proportional views


    DownLoad:  Full-Size Img  PowerPoint