Title
Author
DOI
Article Type
Special Issue
Volume
Issue
ABO discrepancy due to the para-Bombay phenotype: a case report
1Department of Blood Transfusion, Wenzhou Central Hospital, Dingli Clinical School of Wenzhou Medical University, 325000 Wenzhou, Zhejiang, China
2Institute of Transfusion Medicine, Center Blood Station of Wenzhou, 325000 Wenzhou, Zhejiang, China
DOI: 10.22514/jomh.2023.123 Vol.19,Issue 11,November 2023 pp.116-119
Submitted: 06 September 2023 Accepted: 08 October 2023
Published: 30 November 2023
*Corresponding Author(s): Rongcang Chen E-mail: crc1223@126.com
*Corresponding Author(s): Xingzhong Hu E-mail: 201431020185@smail.xtu.edu.cn
In this study, we aimed to determine and analyze the genetic differences of the FUT1 and FUT2 genes within an individual exhibiting the Para-Bombay phenotype. Standard serological tests were conducted to analyze the ABO phenotype. The amplification of FUT1 and FUT2 genes was conducted by polymerase chain reaction and amplicons were sequenced. The determination of the ABO genotype was conducted by sequencing exons 1 to 7 of the ABO gene. The Lewis phenotype was defined as Le(a−b+); Despite this, red blood cells (RBCs) did not show signs of A, B and H antigens using the serological method utilized in this study. However, Analyses of sequencing and cloning demonstrated the existence of a FUT1 mutation at position c.658C>T and an inactive allele FUT1*01N.06 (c.551_552delAG). Genetic testing for ABO blood types was subsequently determined to be ABO*B.01/ABO*B.01 (c.297A>G; c.526C>G; c.657C>T; c.703G>A; c.796C>A; c.803G>C; c.930G>A). Heterozygosity for indel and missense mutation within the coding region of FUT1 are likely to be responsible for development of the Para-Bombay phenotype.
ABO discrepancy; Para-Bombay; FUT1; FUT2
Ying Lin,Rongcang Chen,Xingzhong Hu. ABO discrepancy due to the para-Bombay phenotype: a case report. Journal of Men's Health. 2023. 19(11);116-119.
[1] Liang W, Cai F, Yang L, Zhang Z, Wang Z. Four non-functional FUT1 alleles were identified in seven Chinese individuals with para-Bombay phenotypes. Iranian Journal of Public Health. 2018; 47: 1128–1136.
[2] Soejima M, Koda Y. Rapid detection of phenotypes Bombay se(del) and nonsecretor rs200157007 SNP (302C>T) by real-time PCR-based methods. Scientific Reports. 2021; 11: 14996.
[3] Shahriyari F, Oodi A, Kenari FN, Shahabi M. Identification of two novel FUT1 mutations in people with Bombay phenotype from Iran. Transfusion and Apheresis Science. 2023; 62: 103640.
[4] Lin J, Chen R, Zhu S, Qiu X, Huang Y, Wang X. Sequence analysis of α-(1, 2)-fucosyltransferase gene in nine Chinese individuals with para-Bombay phenotype. Gene. 2019; 685: 21–23.
[5] Shaik L, Ravalani A, Devara J, Rathore SS, Singh R. Secondary postpartum hemorrhage presenting with Bombay blood group: a case report. Cureus. 2020; 12: e9758.
[6] Huang Y, Lin J, Zhu S. Genetic sequencing analysis of the A307 subgroup of ABO blood group. International Journal of Clinical and Experimental Medicine. 2015; 8: 9585–9589.
[7] Lin JJ, Huang Y, Zhu SY. Genetic analysis of an individual with para-Bombay phenotype. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013; 30: 165–167. (In Chinese)
[8] Shrivastava M, Navaid S, Peethambarakshan A, Agrawal K, Khan A. Detection of rare blood group, Bombay (Oh) phenotype patients and management by acute normovolemic hemodilution. Asian Journal of Transfusion Science. 2015; 9: 74.
[9] Bullock T, Win N, Jackson B, Sivarajan S, Penny J, Mir N. Bombay phenotype (O(h)) and high-titer anti-H in pregnancy: two case reports and a review of the literature. Transfusion. 2018; 58: 2766–2772.
[10] Jacobs JW, Horstman E, Gisriel SD, Tormey CA, Sostin N. Incidental discovery of a patient with the Bombay phenotype. Laboratory Medicine. 2023; 54: e14–e17.
[11] Cai XH, Fang CJ, Jin S, Liu X, Fan LF, Yang XP, et al. H blood-group deficiency has a high frequency in Lahu Chinese. Transfusion Medicine. 2011; 21: 209–210.
[12] Yu L, Yang Y, Broadberry RE, Chen Y, Lin M. Heterogeneity of the human H Blood group a (1,2) fucosyltransferase gene among para-Bombay individuals. Vox Sanguinis. 1997; 72: 36–40.
[13] Cai XH, Jin S, Liu X, Fan LF, Lu Q, Xiang D. Molecular genetic analysis for the para-Bombay blood group revealing two novel alleles in the FUT1 gene. Blood Transfusion. 2011; 9: 466–468.
Science Citation Index Expanded (SciSearch) Created as SCI in 1964, Science Citation Index Expanded now indexes over 9,200 of the world’s most impactful journals across 178 scientific disciplines. More than 53 million records and 1.18 billion cited references date back from 1900 to present.
Journal Citation Reports/Science Edition Journal Citation Reports/Science Edition aims to evaluate a journal’s value from multiple perspectives including the journal impact factor, descriptive data about a journal’s open access content as well as contributing authors, and provide readers a transparent and publisher-neutral data & statistics information about the journal.
Directory of Open Access Journals (DOAJ) DOAJ is a unique and extensive index of diverse open access journals from around the world, driven by a growing community, committed to ensuring quality content is freely available online for everyone.
SCImago The SCImago Journal & Country Rank is a publicly available portal that includes the journals and country scientific indicators developed from the information contained in the Scopus® database (Elsevier B.V.)
Publication Forum - JUFO (Federation of Finnish Learned Societies) Publication Forum is a classification of publication channels created by the Finnish scientific community to support the quality assessment of academic research.
Scopus: CiteScore 0.9 (2023) Scopus is Elsevier's abstract and citation database launched in 2004. Scopus covers nearly 36,377 titles (22,794 active titles and 13,583 Inactive titles) from approximately 11,678 publishers, of which 34,346 are peer-reviewed journals in top-level subject fields: life sciences, social sciences, physical sciences and health sciences.
Norwegian Register for Scientific Journals, Series and Publishers Search for publication channels (journals, series and publishers) in the Norwegian Register for Scientific Journals, Series and Publishers to see if they are considered as scientific. (https://kanalregister.hkdir.no/publiseringskanaler/Forside).
Top