351:(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.
360:
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.
36:
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313:) 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.
206:(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
369:
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.
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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
213:
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
368:
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
350:
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
245:(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
294:. 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
210:, 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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233:. 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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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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191:. 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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198:(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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301:. More specifically, the minimum requirement for H antigenicity is the terminal disaccharide
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343:, they are likely to have been the result of a gene duplication of a common gene ancestor.
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an initiative to connect individuals who donate and who are in need of Bombay blood group.
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446:"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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323:- diagram showing the molecular structure of the ABO(H) antigen system
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397:. 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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331:) which encodes the fucosyl transferase and the Se locus (
417:"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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60:. Unsourced material may be challenged and removed.
771:Transfusion-associated graft versus host disease
486:The Bombay, para-Bombay and other H deficiencies
269:of the H, A and B antigens involves a series of
473:Blood Group Antigen Gene Mutation Database at
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8:
766:Transfusion associated circulatory overload
776:Febrile non-hemolytic transfusion reaction
649:International Society of Blood Transfusion
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311:Galactoside 2-alpha-L-fucosyltransferase 2
452:(in Brazilian Portuguese). 27 March 2023.
391:Dean L. (2005). "6: The Hh blood group".
217:In order to avoid complications during a
120:Learn how and when to remove this message
419:[The first import of blood saved a
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273:(glycosyl transferases) that transfer
761:Transfusion related acute lung injury
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231:acute hemolytic transfusion reaction
58:adding citations to reliable sources
394:Blood Groups and Red Cell Antigens
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804:Transfusion transmitted infection
496:Genetics of the Bombay Phenotype
364:Hemolytic disease of the newborn
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175:Problems with blood transfusion
45:needs additional citations for
281:chains, which are attached to
1:
277:. The resulting antigens are
202:(also called substance A) or
693:Intraoperative blood salvage
709:Blood compatibility testing
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346:The H locus contains four
756:Transfusion hemosiderosis
736:Monocyte monolayer assay
415:Colprensa (2017-07-13).
147:was first discovered in
611:Granulocyte transfusion
427:(in Spanish). MedellĂn
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1054:Blood antigen systems
746:Transfusion reactions
319:
1059:Transfusion medicine
726:Kleihauer–Betke test
688:Exchange transfusion
567:Platelet transfusion
541:transfusion medicine
490:BombayBloodGroup.Org
153:Indian sub-continent
54:improve this article
814:Blood group systems
749:and adverse effects
584:Fresh frozen plasma
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227:complement cascade
183:that attacked all
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618:Blood substitutes
606:White blood cells
537:Blood transfusion
321:Hh antigen system
225:can activate the
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139:group, is a rare
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43:This article
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267:Biosynthesis
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262:Biochemistry
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137:Bombay blood
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110:October 2019
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52:Please help
47:verification
44:
822:Blood types
721:Coombs test
557:Whole blood
423:girl].
1064:South Asia
1048:Categories
634:Blood bank
431:2017-07-13
401:2013-02-12
373:References
341:homologous
247:blood bank
214:antigen.
187:of normal
181:antibodies
161:Bangladesh
141:blood type
80:newspapers
839:Augustine
783:reaction
781:Hemolytic
670:Apheresis
562:Platelets
501:know more
307:galactose
252:Colombian
237:Incidence
204:B antigen
200:A antigen
196:H antigen
145:phenotype
135:, or the
964:Lutheran
869:Dombrock
654:ISBT 128
355:Genetics
287:proteins
165:Pakistan
1003:Scianna
889:Gerbich
792:delayed
663:Methods
271:enzymes
94:scholar
914:Indian
859:Cromer
854:Colton
579:Plasma
303:fucose
283:lipids
256:Brazil
243:Mumbai
167:) and
149:Bombay
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1033:Other
959:Lewis
949:Knops
929:KANNO
874:Duffy
864:Diego
787:acute
702:Tests
471:BGMUT
421:paisa
348:exons
157:India
101:JSTOR
87:books
1013:T-Tn
998:RHAG
996:and
989:Raph
984:P1PK
944:Kidd
934:Kell
899:GLOB
884:FORS
844:CD59
589:PF24
539:and
475:NCBI
333:FUT2
329:FUT1
285:and
169:Iran
73:news
1018:Vel
1008:Sid
974:MNS
954:Lan
924:JMH
894:GIL
827:ABO
479:NIH
469:at
56:by
1050::
1028:Yt
1023:Xg
994:Rh
979:OK
969:LW
938:Xk
919:JR
909:Ii
904:Hh
879:Er
680:,
676:,
477:,
467:Hh
448:.
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208:Rh
171:.
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133:hh
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