Bombay phenotype


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Related to Bombay phenotype: recessive epistasis

Bombay phenotype

[bombā′]
Etymology: Bombay, India, where first reported
a rare genetic trait in which there is no expression of the A, B, or H antigens on the red blood cells. Bombay phenotypes (genetically hh) lack the H gene which normally produces the H antigen, a precursor for A and B antigens. Since H is not expressed, A or B cannot be expressed. The serum contains anti-A, anti-B, and anti-H. See also ABO blood group.
A rare variant of ABO antigens on RBCs
Physiology For A or B antigens to be expressed on RBCs, the cells must have a precursor substance—H antigen encoded by the H gene; Oh type RBCs do not agglutinate with antisera containing anti-A, anti-B, or anti-H type antibodies as they lack the H gene, and ergobstance; Oh subjects do have anti-A, anti-B, and anti-H antibodies in their serum, which may cause problems when cross-matching donors and recipients
References in periodicals archive ?
The anti-H generated indigenously clearly distinguished "O' group from Bombay Phenotype.
Missense mutation of FUTI and detection of FUT2 are responsible for Indian Bombay Phenotype of ABO blood group system.
Bombay phenotypes are homozygous (hh) for T725G mutation (Leucine is changed to Arginine) in the FUT I coding region with gene deletion of FUT2.

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