U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Bombay phenotype

MedGen UID:
395255
•Concept ID:
C1859408
•
Finding
Synonym: BOMBAY PHENOTYPE
 
Genes (locations): FUT1 (19q13.33); FUT2 (19q13.33)
 
OMIM®: 616754

Professional guidelines

PubMed

Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review.
Dodamani MH, Sehemby M, Memon SS, Sarathi V, Lila AR, Chapla A, Bhandare VV, Patil VA, Shah NS, Thomas N, Kunwar A, Bandgar TR
J Pediatr Endocrinol Metab 2021 Dec 20;34(12):1505-1513. Epub 2021 Sep 8 doi: 10.1515/jpem-2021-0403. PMID: 34492747
Association of GST null genotypes with anti-tuberculosis drug induced hepatotoxicity in Western Indian population.
Gupta VH, Singh M, Amarapurkar DN, Sasi P, Joshi JM, Baijal R, H R PK, Amarapurkar AD, Joshi K, Wangikar PP
Ann Hepatol 2013 Nov-Dec;12(6):959-65. PMID: 24114827
Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation.
Etzioni A, Sturla L, Antonellis A, Green ED, Gershoni-Baruch R, Berninsone PM, Hirschberg CB, Tonetti M
Am J Med Genet 2002 Jun 15;110(2):131-5. doi: 10.1002/ajmg.10423. PMID: 12116250

Recent clinical studies

Etiology

Turning universal O into rare Bombay type blood.
Anso I, Naegeli A, Cifuente JO, Orrantia A, Andersson E, Zenarruzabeitia O, Moraleda-Montoya A, García-Alija M, Corzana F, Del Orbe RA, Borrego F, Trastoy B, Sjögren J, Guerin ME
Nat Commun 2023 Mar 30;14(1):1765. doi: 10.1038/s41467-023-37324-z. PMID: 36997505Free PMC Article
Incidental Discovery of a Patient with the Bombay Phenotype.
Jacobs JW, Horstman E, Gisriel SD, Tormey CA, Sostin N
Lab Med 2023 Jan 5;54(1):e14-e17. doi: 10.1093/labmed/lmac075. PMID: 35776424
Bombay phenotype (O(h) ) and high-titer anti-H in pregnancy: two case reports and a review of the literature.
Bullock T, Win N, Jackson B, Sivarajan S, Penny J, Mir N
Transfusion 2018 Dec;58(12):2766-2772. Epub 2018 Sep 27 doi: 10.1111/trf.14906. PMID: 30260479
The H blood group system.
Scharberg EA, Olsen C, Bugert P
Immunohematology 2016 Sep;32(3):112-118. PMID: 27834485
The Bombay blood group: are we out of risk?
Dipta TF, Hossain AZ
Mymensingh Med J 2011 Jul;20(3):536-40. PMID: 21804525

Diagnosis

Overcoming challenges in managing a high-risk pregnancy with placenta previa and newly diagnosed Bombay phenotype.
Van Denakker TA, Haddaway K, Cunningham A, Leonard K, Darwin K, Meeks M, Lawson SM, Vaught A, Moliterno A, Frank SM, Tobian A, Crowe E, Bloch E, Rai H
Transfus Apher Sci 2023 Dec;62(6):103832. Epub 2023 Oct 11 doi: 10.1016/j.transci.2023.103832. PMID: 37858399
Analysis of the molecular mechanism and pedigree investigation of para-Bombay phenotype caused by combined mutations at position h(649) and h(768) of FUT1 gene.
Sun X, Cai Y, Ni H, Cao X, Ma Y, Zhang Y, Jiang C, Lu J, Cong H
Blood Transfus 2022 Sep;20(5):414-419. Epub 2021 Nov 29 doi: 10.2450/2021.0215-21. PMID: 34967725Free PMC Article
Incidental diagnosis of leukocyte adhesion deficiency type II following ABO typing.
Cooper N, Li YT, Möller A, Schulz-Weidner N, Sachs UJ, Wagner F, Hackstein H, Wienzek-Lischka S, Grüneberg M, Wild MK, Bein G, Marquardt T
Clin Immunol 2020 Dec;221:108599. Epub 2020 Sep 28 doi: 10.1016/j.clim.2020.108599. PMID: 32992000
Erythrocyte phenotype in a pregnant woman of Sri Lanka. Description of the case and complications related to communication problems.
Ringressi A, Cunsolo V, Malentacchi F, Pozzessere S
Ann Ist Super Sanita 2018 Jan-Mar;54(1):35-39. doi: 10.4415/ANN_18_01_08. PMID: 29616672
H-deficient Bombay and para-Bombay red blood cells are most strongly agglutinated by the galactophilic lectins of Aplysia and Pseudomonas aeruginosa that detect I and P1 antigens.
Gilboa-Garber N, Sudakevitz D, Levene C, Rahimi-Levene N, Yahalom V
Immunohematology 2006;22(1):15-22. PMID: 16563047

Therapy

Incidental diagnosis of leukocyte adhesion deficiency type II following ABO typing.
Cooper N, Li YT, Möller A, Schulz-Weidner N, Sachs UJ, Wagner F, Hackstein H, Wienzek-Lischka S, Grüneberg M, Wild MK, Bein G, Marquardt T
Clin Immunol 2020 Dec;221:108599. Epub 2020 Sep 28 doi: 10.1016/j.clim.2020.108599. PMID: 32992000
Genomic analysis of para-Bombay individuals in south-eastern China: the possibility of linkage and disequilibrium between FUT1 and FUT2.
Zhang A, Chi Q, Ren B
Blood Transfus 2015 Jul;13(3):472-7. Epub 2015 Jan 29 doi: 10.2450/2015.0185-14. PMID: 25761312Free PMC Article
The Bombay blood group: are we out of risk?
Dipta TF, Hossain AZ
Mymensingh Med J 2011 Jul;20(3):536-40. PMID: 21804525
Identification of six new alleles at the FUT1 and FUT2 loci in ethnically diverse individuals with Bombay and Para-Bombay phenotypes.
Storry JR, Johannesson JS, Poole J, Strindberg J, Rodrigues MJ, Yahalom V, Levene C, Fujita C, Castilho L, Hustinx H, Olsson ML
Transfusion 2006 Dec;46(12):2149-55. doi: 10.1111/j.1537-2995.2006.01045.x. PMID: 17176328
Two prevalent h alleles in para-Bombay haplotypes among 250,000 Taiwanese.
Chen DP, Tseng CP, Wang WT, Peng CT, Tsao KC, Wu TL, Lin KT, Sun CF
Ann Clin Lab Sci 2004 Summer;34(3):314-8. PMID: 15487706

Prognosis

Discordance between ABC blood phenotype and genotype in a domestic short-haired cat.
Ginoudis A, Canard B, Kehl A, Giger U, Koutinas C, Christoforaki S, Smyroglou E, Polizopoulou Z, Mylonakis ME
J Vet Intern Med 2024 Jan-Feb;38(1):358-362. Epub 2023 Nov 3 doi: 10.1111/jvim.16927. PMID: 37921544Free PMC Article
FUT1 variants responsible for Bombay or para-Bombay phenotypes in a database.
Soejima M, Koda Y
Sci Rep 2023 Oct 14;13(1):17447. doi: 10.1038/s41598-023-44731-1. PMID: 37838738Free PMC Article
A novel FUT1*c.889C>T allele associated with the para-Bombay AB phenotype and computational evaluation of the mutation effect.
Luo H, Shao Y, Wen J, Chen Z, Ji Y, Wang J, Wang Z, Luo G
Transfusion 2023 May;63(5):912-917. Epub 2023 Feb 28 doi: 10.1111/trf.17293. PMID: 36852717
Two novel alleles on Fucosyltransferase 2 from northern Thai para-Bombay family and computational prediction on mutation effect.
Anukul N, Wita R, Leetrakool N, Sirikul C, Veeraphan N, Wongchai S
Transfusion 2021 Nov;61(11):3247-3257. Epub 2021 Sep 6 doi: 10.1111/trf.16646. PMID: 34487549
Two prevalent h alleles in para-Bombay haplotypes among 250,000 Taiwanese.
Chen DP, Tseng CP, Wang WT, Peng CT, Tsao KC, Wu TL, Lin KT, Sun CF
Ann Clin Lab Sci 2004 Summer;34(3):314-8. PMID: 15487706

Clinical prediction guides

FUT1 variants responsible for Bombay or para-Bombay phenotypes in a database.
Soejima M, Koda Y
Sci Rep 2023 Oct 14;13(1):17447. doi: 10.1038/s41598-023-44731-1. PMID: 37838738Free PMC Article
A novel FUT1*c.889C>T allele associated with the para-Bombay AB phenotype and computational evaluation of the mutation effect.
Luo H, Shao Y, Wen J, Chen Z, Ji Y, Wang J, Wang Z, Luo G
Transfusion 2023 May;63(5):912-917. Epub 2023 Feb 28 doi: 10.1111/trf.17293. PMID: 36852717
Molecular Genetic Analysis of Para-Bombay Phenotype in Chinese: Identification of a Novel FUT1 Allele.
Li T, Shan Y, Zhou X, Wu L, Xie J, Du C, Chong J, Liu J
Clin Lab 2023 Jan 1;69(1) doi: 10.7754/Clin.Lab.2022.220419. PMID: 36649506
Two novel alleles on Fucosyltransferase 2 from northern Thai para-Bombay family and computational prediction on mutation effect.
Anukul N, Wita R, Leetrakool N, Sirikul C, Veeraphan N, Wongchai S
Transfusion 2021 Nov;61(11):3247-3257. Epub 2021 Sep 6 doi: 10.1111/trf.16646. PMID: 34487549
Bombay phenotype (O(h) ) and high-titer anti-H in pregnancy: two case reports and a review of the literature.
Bullock T, Win N, Jackson B, Sivarajan S, Penny J, Mir N
Transfusion 2018 Dec;58(12):2766-2772. Epub 2018 Sep 27 doi: 10.1111/trf.14906. PMID: 30260479

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...