U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Para-Bombay phenotype

MedGen UID:
347137
•Concept ID:
C1859411
•
Finding
Synonym: PARA-BOMBAY PHENOTYPE
 
OMIM®: 211100; 616754

Recent clinical studies

Etiology

Identification of a novel FUT1 allele with c.325_414dup in a Chinese individual with para-Bombay phenotype.
Liu J, Li L, Wu G, Ma T, Liu X, Huang B, Chen J, Zhou Y
Transfusion 2023 Aug;63(8):E45-E46. Epub 2023 Jun 15 doi: 10.1111/trf.17452. PMID: 37318046
Identification of a novel nonfunctional FUT1 allele with 967delG in a Chinese para-Bombay phenotype individual.
Liu F, Ou G, Li M
Transfusion 2022 Oct;62(10):E61-E62. Epub 2022 Aug 16 doi: 10.1111/trf.17063. PMID: 35972016
Identification of a novel FUT1 allele in a Chinese individual with para-Bombay phenotype.
Hu B, Yin F, Liu L, Feng Z, Pang S
Transfusion 2022 Mar;62(3):E19-E20. Epub 2021 Nov 19 doi: 10.1111/trf.16750. PMID: 34799859
NM_000148.4(FUT1):c.[229C>T;302C>T] with 2 missense variations in the FUT1 gene associated with a para-Bombay phenotype.
Chen Q, Feng C, Srivastava K, Liu T, Flegel WA, Li M
Transfusion 2022 Jan;62(1):E5-E7. Epub 2021 Nov 18 doi: 10.1111/trf.16743. PMID: 34792200Free PMC Article
The para-Bombay phenotype in Chinese persons.
Lin-Chu M, Broadberry RE, Tsai SJ, Chiou PW
Transfusion 1987 Sep-Oct;27(5):388-90. doi: 10.1046/j.1537-2995.1987.27587320529.x. PMID: 3629667

Diagnosis

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
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

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
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

Identification of two novel variants, c.-35A>T and c.[-35A>T, 725T>G], in the FUT1 gene in a patient exhibiting the para-Bombay phenotype.
Intharanut K, Khumsuk P, Chidtrakoon S, Glab-Ampai K, Nathalang O
Transfusion 2024 Dec;64(12):2252-2259. Epub 2024 Oct 29 doi: 10.1111/trf.18053. PMID: 39473114
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
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

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
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
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

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...