Bombay Phenotype

Description

Two main types of recessive H-deficient red cell phenotypes are recognized: (1) the nonsecretor classic Bombay type (h null and se (FUT2 ) null) with H deficiency of both red cells and saliva, and (2) the secretor Bombay type (h null, Se heterozygous) with H deficiency in red cells but normal ABH in secretions. The latter has been designated para-Bombay phenotype. Under this 2-locus model, the H blood group locus determines expression of the H antigen (as well as the A and/or B antigens) in the erythroid lineage, whereas the SE locus controls H expression (and thus A or B antigen expression) in a variety of secretory epithelia and in saliva. Bombay and para-Bombay individuals display no apparent deleterious phenotype except in circumstances requiring blood transfusion, wherein they are cross-match incompatible with all donors except other H-deficient individuals (summary by Kelly et al., 1994).

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Bombay Phenotype Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FUT1.

By Fulgent Genetics Fulgent Genetics (United States).

FUT1
Specificity
100 %
Genes
100 %

You can get up to -7 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LYNCH SYNDROME I MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY; MEHMO CRIGLER-NAJJAR SYNDROME, TYPE II