340:(h/h), the Bombay phenotype results. The classical Bombay phenotype is caused by a Tyr316Ter mutation in the coding region of FUT1. The mutation introduces a stop codon, leading to a truncated enzyme that lacks 50 amino acids at the C-terminal end, rendering the enzyme inactive. In Caucasians, the Bombay phenotype may be caused by a number of mutations. Likewise, a number of mutations have been reported to underlie the para-Bombay phenotype. The Se locus contains the FUT2 gene, which is expressed in secretory glands. Individuals who are "secretors" (Se/Se or Se/se) contain at least one copy of a functioning enzyme. They produce a soluble form of H antigen that is found in saliva and other bodily fluids. "Non-secretors" (se/se) do not produce soluble H antigen. The enzyme encoded by FUT2 is also involved in the synthesis of antigens of the Lewis blood group.
349:
alleles without being able to express them. Because both parents must carry this recessive allele to transmit this blood type to their children, the condition mainly occurs in small closed-off communities where there is a good chance of both parents of a child either being of Bombay type, or being heterozygous for the h allele and so carrying the Bombay characteristic as recessive. Other examples may include noble families, which are inbred due to custom rather than local genetic variety.
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302:) that catalyzes the final step in the synthesis of the molecule. Depending upon a person's ABO blood type, the H antigen is converted into either the A antigen, B antigen, or both. If a person has group O blood, the H antigen remains unmodified. Therefore, the H antigen is present more in blood type O and less in blood type AB.
195:(substance B) on their red blood cells, whatever alleles they may have of the A and B blood-group genes, because A antigen and B antigen are made from H antigen. For this reason people who have Bombay phenotype can donate red blood cells to any member of the ABO blood group system (unless some other blood factor gene, such as
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because of the IgM produced by the immune system of the mother. Since IgMs are not transported across the microscopic placental blood vessels (IgG is the only immunoglobulin capable of crossing placenta) they cannot reach the blood stream of the fetus to provoke the expected acute hemolytic reaction.
348:
Bombay phenotype occurs in individuals who have inherited two recessive alleles of the H gene (i.e. their genotype is hh). These individuals do not produce the H carbohydrate that is the precursor to the A and B antigens, meaning that individuals may possess alleles for either or both of the A and B
202:
Receiving blood that contains an antigen which has never been in the patient's own blood causes an immune reaction due to the immune system of a hypothetical receiver producing immunoglobulins against that antigen—in the case of a Bombay patient, not only against antigens A and B, but also against H
357:
In theory, the maternal production of anti-H during pregnancy might cause hemolytic disease in a fetus who did not inherit the mother's Bombay phenotype. In practice, cases of HDN caused in this way have not been described. This may be possible due to the rarity of the Bombay phenotype but also
339:
that span more than 8 kb of genomic DNA. Both the Bombay and para-Bombay phenotypes are the result of point mutations in the FUT1 gene. At least one functioning copy of FUT1 needs to be present (H/H or H/h) for the H antigen to be produced on red blood cells. If both copies of FUT1 are inactive
234:(formerly Bombay) locals can have occurrences in as much as 0.01% (1 in 10,000) of inhabitants. Given that this condition is very rare, any person with this blood group who needs an urgent blood transfusion will probably be unable to get it, as no
283:. People who lack the H antigen do not suffer from deleterious effects, and being H-deficient is only an issue if they need a blood transfusion, because they would need blood without the H antigen present on red blood cells.
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that are anchored in the red blood cell membrane. The function of the H antigen, apart from being an intermediate substrate in the synthesis of ABO blood group antigens, is not known, although it may be involved in
199:, is incompatible), but they cannot receive blood from any member of the ABO blood group system (which always contains one or more of A, B or H antigens), but only from other people who have Bombay phenotype.
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would have any in stock. Those anticipating the need for blood transfusion may bank blood for their own use, but this option is not available in cases of accidental injury. For example, by 2017 only one
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222:. This cannot be prevented unless those typing the blood and providing care are aware of the existence of the Bombay blood group and have the means to test for it.
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210:, it is very important to detect Bombay phenotype individuals, but the usual tests for ABO blood group system would show them as group O. Since anti-H
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The first person found to have the Bombay phenotype had a blood type that reacted to other blood types in a way never seen before. The serum contained
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This very rare phenotype is generally present in about 0.0004% (about 4 per million) of the human population, though in some places such as
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180:. The red blood cells appeared to lack all of the ABO blood group antigens and to have an additional antigen that was previously unknown.
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for a transfusion. In 2023, it was reported that only three registered
Brazilians nationwide possessed this phenotype.
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187:(also called substance H), the antigen which is present in blood group O. As a result, they cannot make
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Two regions of the genome encode two enzymes with very similar substrate specificities: the H locus (
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at q.13.3. — FUT1 and FUT2 are tightly linked, being only 35 kb apart. Because they are highly
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290:. More specifically, the minimum requirement for H antigenicity is the terminal disaccharide
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an initiative to connect individuals who donate and who are in need of Bombay blood group.
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435:"O 'sangue raro' identificado em 3 brasileiros e que exigiu força-tarefa para transfusão"
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person was known to have this phenotype, and blood had to be imported from
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312:- diagram showing the molecular structure of the ABO(H) antigen system
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386:. Bethesda, MD: National Center for Biotechnology Information (US) ll
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The specificity of the H antigen is determined by the sequence of
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Individuals with the rare Bombay phenotype (hh) do not express
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320:) which encodes the fucosyl transferase and the Se locus (
406:"La primera importación de sangre salvó a una niña paisa"
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by Dr. Y. M. Bhende in 1952. It is mostly found in the
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49:. Unsourced material may be challenged and removed.
760:Transfusion-associated graft versus host disease
475:The Bombay, para-Bombay and other H deficiencies
258:of the H, A and B antigens involves a series of
462:Blood Group Antigen Gene Mutation Database at
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755:Transfusion associated circulatory overload
765:Febrile non-hemolytic transfusion reaction
638:International Society of Blood Transfusion
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300:Galactoside 2-alpha-L-fucosyltransferase 2
441:(in Brazilian Portuguese). 27 March 2023.
380:Dean L. (2005). "6: The Hh blood group".
206:In order to avoid complications during a
109:Learn how and when to remove this message
408:[The first import of blood saved a
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262:(glycosyl transferases) that transfer
750:Transfusion related acute lung injury
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220:acute hemolytic transfusion reaction
47:adding citations to reliable sources
383:Blood Groups and Red Cell Antigens
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793:Transfusion transmitted infection
485:Genetics of the Bombay Phenotype
353:Hemolytic disease of the newborn
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164:Problems with blood transfusion
34:needs additional citations for
270:chains, which are attached to
1:
266:. The resulting antigens are
191:(also called substance A) or
682:Intraoperative blood salvage
698:Blood compatibility testing
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335:The H locus contains four
745:Transfusion hemosiderosis
725:Monocyte monolayer assay
404:Colprensa (2017-07-13).
136:was first discovered in
600:Granulocyte transfusion
416:(in Spanish). MedellĂn
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1043:Blood antigen systems
735:Transfusion reactions
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1048:Transfusion medicine
715:Kleihauer–Betke test
677:Exchange transfusion
556:Platelet transfusion
530:transfusion medicine
479:BombayBloodGroup.Org
142:Indian sub-continent
43:improve this article
803:Blood group systems
738:and adverse effects
573:Fresh frozen plasma
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216:complement cascade
172:that attacked all
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214:can activate the
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128:group, is a rare
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32:This article
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418:. Retrieved
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256:Biosynthesis
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251:Biochemistry
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126:Bombay blood
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99:October 2019
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41:Please help
36:verification
33:
811:Blood types
710:Coombs test
546:Whole blood
412:girl].
1053:South Asia
1037:Categories
623:Blood bank
420:2017-07-13
390:2013-02-12
362:References
330:homologous
236:blood bank
203:antigen.
176:of normal
170:antibodies
150:Bangladesh
130:blood type
69:newspapers
828:Augustine
772:reaction
770:Hemolytic
659:Apheresis
551:Platelets
490:know more
296:galactose
241:Colombian
226:Incidence
193:B antigen
189:A antigen
185:H antigen
134:phenotype
124:, or the
953:Lutheran
858:Dombrock
643:ISBT 128
344:Genetics
276:proteins
154:Pakistan
992:Scianna
878:Gerbich
781:delayed
652:Methods
260:enzymes
83:scholar
903:Indian
848:Cromer
843:Colton
568:Plasma
292:fucose
272:lipids
245:Brazil
232:Mumbai
156:) and
138:Bombay
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948:Lewis
938:Knops
918:KANNO
863:Duffy
853:Diego
776:acute
691:Tests
460:BGMUT
410:paisa
337:exons
146:India
90:JSTOR
76:books
1002:T-Tn
987:RHAG
985:and
978:Raph
973:P1PK
933:Kidd
923:Kell
888:GLOB
873:FORS
833:CD59
578:PF24
528:and
464:NCBI
322:FUT2
318:FUT1
274:and
158:Iran
62:news
1007:Vel
997:Sid
963:MNS
943:Lan
913:JMH
883:GIL
816:ABO
468:NIH
458:at
45:by
1039::
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1012:Xg
983:Rh
968:OK
958:LW
927:Xk
908:JR
898:Ii
893:Hh
868:Er
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466:,
456:Hh
437:.
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197:Rh
160:.
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122:hh
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