
One of the rarest blood groups has surfaced in the city — a father who was donating blood to his son was found to be Bombay 'Oh' Phenotype. And BGS Global Hospital, which along with many other hospitals is observing World Blood Donor Day, added a new donor to its Rare Blood Group Registry.
Called the Bombay Phenotype Group — because the first such case was found in Bombay — its incidence is 0.0004% of the global population.
Annappa Hanumanthappa, 42, who hails from Davanagere, was identified to have Bombay Phenotype Group when he came forward to donate blood for his son Darshan, 7, who is undergoing treatment for a cardiac problem at the hospital.
According to BGS Global Hospital head of department of transfusion medicine, Annapurna Ramesh, "There are a total of 179 people known to have Bombay Phenotype Blood group in India, and this identification makes Annappa the 180th person with this blood group.''
This blood group may be commonly mistaken as 'O' and many a time, not identified at all if proper blood grouping or testing practices are not followed. During routine grouping conducted at the hospital's blood bank, Annappa's blood group showed up as O, with no reaction to Anti-A and Anti-B antibodies.
When reverse grouping was performed, it showed agglutination with O cells, proving he had the rare Bombay 'Oh' Phenotype blood. Repeated testing was done as it is important to perform reverse grouping or serum grouping to detect the Bombay Blood group. People of this group can donate and receive blood only among those with the same blood group.
If a Bombay Blood Group recipient is not given blood from a Bombay Blood Group person, it can lead to a haemolytic transfusion reaction, which can be fatal. BGS Hospitals vice-chairman Dr N K Venkataramana said: "At times when this rare blood group is required for surgeries, blood from blood banks in other cities has to be brought, or donors from other locations have to travel to the hospital where blood is required." BGS Global Hospital's Rare Blood Group Registry, instituted two years ago with the aim to help those in need of rare blood types, has around 100 voluntary donors, including three donors of Bombay Phenotype. Annappa has also happily agreed to be a voluntary donor.
CAUSE: GENETIC MUTATION
Bombay Phenotype is one of the rarest blood groups: one in every 17,600 people in India or one in every 25,000 people in the world has this group.
The cause of this antigenic absence is that the individuals produce no H glycosyl transferase ( FUT1). There is no H enzyme activity detected on the individual’s red cells or in their serum.
These individuals may, however, possess either the A and / or the B gene on chromosome 9 and while an A or B glycosyl transferase may be produced there is no H antigen precursor that can be converted into either the A or B antigen (8, 39).
The cause of the Bombay phenotype is, predominately, mutation in the H gene on chromosome 19 that causes a non functional H glycosyl transferase to be produced. This is generally a Mendelian recessive gene. One cause identified has been a mutation that changes the code for trypsin at amino acid residue 316 of the transferase to that for a stop codon. The result is a truncated, non-functional H transferase (8).
"If one is O group, make sure it is not Bombay Blood group. A person with Bombay Phenotype should always be cautious not to receive any other blood type. He should always carry an identity card prominently displaying his blood group. In developed countries, one may opt to preserve a few units of blood by cryopreservation for about 10 years, to be used during an emergency. However, with facilities in India, blood can be preserved only for 45 days.
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