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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

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

Genetic and mechanistic evaluation of an individual with para-Bombay phenotype associated with a compound heterozygote comprising two novel FUT1 variants.
Ying Y, Hong X, Zhang J, Ma K, Xu X, Zhu F
Blood Transfus 2024 Sep;22(5):369-376. Epub 2023 Jul 14 doi: 10.2450/BloodTransfus.505. PMID: 37458720Free 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

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    Related information

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    • 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
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      Related information in PubMed Central Links
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