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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 Phenotype of 21-Hydroxylase Deficiency: A Single Center Experience from Western India.
Karlekar M, Barnabas R, Sarathi V, Lila A, Arya S, Hegishte S, Bhandare VV, Memon SS, Patil V, Bandgar T, Kunwar A, Shah N
Indian Pediatr 2024 Oct 15;61(10):966-972. Epub 2024 Jul 23 PMID: 39051316
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
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

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
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
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
Letter: Bombay phenotype.
Beattie KM, Saeed SM
Transfusion 1976 May-Jun;16(3):290. PMID: 936276

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
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
Prenatal diagnosis of Rambam-Hasharon syndrome.
Frydman M, Vardimon D, Shalev E, Orlin JB
Prenat Diagn 1996 Mar;16(3):266-9. doi: 10.1002/(SICI)1097-0223(199603)16:3<266::AID-PD845>3.0.CO;2-#. PMID: 8710783

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
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
Two missense mutations of H type alpha(1,2)fucosyltransferase gene (FUT1) responsible for para-Bombay phenotype.
Wang B, Koda Y, Soejima M, Kimura H
Vox Sang 1997;72(1):31-5. doi: 10.1046/j.1423-0410.1997.00031.x. PMID: 9031498

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
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 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
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
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

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