hhbloodgroup

FromWikipedia,thefreeencyclopedia

Theh/hbloodgroup,alsoknownasOh[1]ortheBombaybloodgroup,isararebloodtype.Thisblood
[phenotype]wasfirstdiscoveredinBombay,nowknownasMumbai,inIndia,byDr.Y.M.Bhendein1952.

Contents
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Problemswithbloodtransfusion
Incidence
Biochemistry
Genetics
Hemolyticdiseaseofthenewborn
Inpopularculture
References
Externallinks

Problemswithbloodtransfusion
ThefirstpersonfoundtohavetheBombayphenotypehadaninterestingbloodtypethatreactedtootherblood
typesinawayneverseenbefore.Theserumcontainedantibodiesthatreactedwithallredbloodcells'normal
ABOphenotypes.TheredbloodcellsappearedtolackalloftheABObloodgroupantigensandtohavean
additionalantigenthatwaspreviouslyunknown.
IndividualswiththerareBombayphenotype(hh)donotexpressHantigen(alsocalledsubstanceH),the
antigenwhichispresentinbloodgroupO.Asaresult,theycannotmakeAantigen(alsocalledsubstanceA)or
Bantigen(substanceB)ontheirredbloodcells,whateverallelestheymayhaveoftheAandBbloodgroup
genes,becauseAantigenandBantigenaremadefromHantigen.ForthisreasonpeoplewhohaveBombay
phenotypecandonateredbloodcellstoanymemberoftheABObloodgroupsystem(unlesssomeotherblood
factorgene,suchasRhesus,isincompatible),buttheycannotreceivebloodfromanymemberoftheABO
bloodgroupsystem(whichalwayscontainsoneormoreofAandBandHantigens),butonlyfromother
peoplewhohaveBombayphenotype.
Receivingbloodwhichcontainsanantigenwhichhasneverbeeninthepatient'sownbloodcausesanimmune
reactionduetotheimmunesystemofahypotheticalreceiverproducingimmunoglobulinsnotonlyagainst
antigenAandB,butalsoagainstHantigen.ThemostcommonimmunoglobulinssynthesizedareIgMandIgG
(andthisseemstohaveaveryimportantroleinthelowfrequencyofhemolyticdiseaseofthenewbornamong
nonBombayoffspringofBombaymothers).
Itisveryimportant,inordertoavoidanycomplicationsduringabloodtransfusion,todetectBombay
phenotypeindividuals,becausetheusualtestsforABObloodgroupsystemwouldshowthemasgroupO.
SinceAntiHimmunoglobulinscanactivatethecomplementcascade,itwillleadtothelysisofredbloodcells
whiletheyarestillinthecirculation,provokinganacutehemolytictransfusionreaction.This,ofcourse,cannot
bepreventedunlessthelabtechnologistthatisinvolvedisawareoftheexistenceoftheBombaybloodgroup
andhasthemeanstotestforit.

Incidence

Thisveryrarephenotypeisgenerallypresentinabout0.0004%(about4permillion)ofthehumanpopulation,
thoughinsomeplacessuchasMumbai(formerlyBombay)localscanhaveoccurrencesinasmuchas0.01%(1
in10,000)ofinhabitants.Giventhatthisconditionisveryrare,anypersonwiththisbloodgroupwhoneedsan
urgentbloodtransfusionwillprobablybeunabletogetit,asnobloodbankwouldhaveanyinstock.Those
anticipatingtheneedforbloodtransfusionmaybankbloodfortheirownuse,butofcoursethisoptionisnot
availableincasesofaccidentalinjury.

Biochemistry
BiosynthesisoftheHandAandBantigensinvolvesaseriesofenzymes(glycosyltransferases)thattransfer
monosaccharides.Theresultingantigensareoligosaccharidechains,whichareattachedtolipidsandproteins
thatareanchoredintheredbloodcellmembrane.ThefunctionoftheHantigen,apartfrombeingan
intermediatesubstrateinthesynthesisofABObloodgroupantigens,isnotknown,althoughitmaybeinvolved
incelladhesion.Fortunately,peoplewholacktheHantigendonotsufferfromdeleteriouseffects,andbeingH
deficientisonlyanissueiftheyneedabloodtransfusion,becausetheywouldneedbloodwithoutH.
ThespecificityoftheHantigenisdeterminedbythesequenceofoligosaccharides.Morespecifically,the
minimumrequirementforHantigenicityistheterminaldisaccharideFucoseGalactose,wherethefucosehas
analpha(12)linkage.Thisantigenisproducedbyaspecificfucosyltransferasethatcatalyzesthefinalstepin
thesynthesisofthemolecule.Dependinguponaperson'sABObloodtype,theHantigenisconvertedinto
eithertheAantigen,Bantigen,orboth.IfapersonhasgroupOblood,theHantigenremainsunmodified.
Therefore,theHantigenispresentmoreinbloodtypeOandlessinbloodtypeAB.
Tworegionsofthegenomeencodetwoenzymeswithverysimilar
substratespecificities:theHlocus(FUT1)whichencodestheFucosyl
transferaseandtheSelocus(FUT2)thatinsteadindirectlyencodesa
solubleformoftheHantigen,whichisfoundinbodilysecretions.Both
genesareonchromosome19atq.13.3.FUT1andFUT2aretightly
linked,beingonly35kbapart.Becausetheyarehighlyhomologous,
theyarelikelytohavebeentheresultofageneduplicationofa
commongeneancestor.TheHlocuscontainsfourexonsthatspanmore
than8kbofgenomicDNA.BoththeBombayandparaBombay
phenotypesaretheresultofpointmutationsintheFUT1gene.Atleast
Hhantigensystemdiagram
onefunctioningcopyofFUT1needstobepresent(H/HorH/h)forthe
showingthemolecularstructureof
Hantigentobeproducedonredbloodcells.IfbothcopiesofFUT1are
theABO(H)antigensystem
inactive(h/h),theBombayphenotyperesults.TheclassicalBombay
phenotypeiscausedbyaTyr316Termutationinthecodingregionof
FUT1.Themutationintroducesastopcodon,leadingtoatruncatedenzymethatlacks50aminoacidsattheC
terminalend,renderingtheenzymeinactive.InCaucasians,theBombayphenotypemaybecausedbyanumber
ofmutations.Likewise,anumberofmutationshavebeenreportedtounderlietheparaBombayphenotype.The
SelocuscontainstheFUT2gene,whichisexpressedinsecretoryglands.Individualswhoare"secretors"
(Se/SeorSe/se)containatleastonecopyofafunctioningenzyme.TheyproduceasolubleformofHantigen
thatisfoundinsalivaandotherbodilyfluids."Nonsecretors"(se/se)donotproducesolubleHantigen.The
enzymeencodedbyFUT2isalsoinvolvedinthesynthesisofantigensoftheLewisbloodgroup.

Genetics
BombayphenotypeoccursinindividualswhohaveinheritedtworecessiveallelesoftheHgene(ie:their
genotypeishh).TheseindividualsdonotproducetheHcarbohydratethatistheprecursortotheAandB
antigens,meaningthatindividualsmaypossessallelesforeitherorbothoftheAandBalleleswithoutbeing
abletoexpressthem.Becausebothparentsmustcarrythisrecessivealleletotransmitthisbloodtypetotheir
children,theconditionmainlyoccursinsmallclosedoffcommunitieswherethereisagoodchanceofboth

parentsofachildeitherbeingofBombaytype,orbeingheterozygousforthehalleleandsocarryingthe
Bombaycharacteristicasrecessive.Otherexamplesmayincludenoblefamilies,whichareinbreddueto
customratherthanlocalgeneticvariety.

Hemolyticdiseaseofthenewborn
Intheory,thematernalproductionofantiHduringpregnancymightcausehemolyticdiseaseinafetuswhodid
notinheritthemother'sBombayphenotype.Inpractice,casesofHDNcausedinthiswayhavenotbeen
described.ThismaybepossibleduetotherarityoftheBombayphenotypebutalsobecauseoftheIgM
producedbytheimmunesystemofthemother.SinceIgMsarenottransportedacrosstheplacentalbarriers(like
IgGare)theycannotreachthebloodstreamofthefetustoprovoketheexpectedacutehemolyticreaction.

Inpopularculture
InthecookingmangaYakitate!!Japan,PierrotwasrevealedtohaveBombayblood,aswastheKingof
Monaco,whowasrelatedtohim.
OnthedaytimesoapoperaGeneralHospital,itwasbelievedthatMonica'shusbandAlancouldnothave
beenthefatherofherchild,asAlan'sbloodwasAB,Monica'swasA,andthechild'swasthoughttobe
O.However,itwaseventuallyrevealedthatAlanwasindeedthefatherheandMonicawereboth
carriersofthehalleleandthebabyhadtheBombayphenotype.[2]
The2003AnimeseriesGetBackersepisode35,theobjecttoberetrievedwasaquantityofBombay
bloodtosaveagirl'slife.
The2007TelugufilmOkkadunnadurevolvesaroundtheBombayBloodGrouptheantagonistisindire
needofbloodofthisbloodgroup,whichcanonlybegivenbytheprotagonist.
Inthe2012JapanesetelevisiondramaSeinaruKaibutsutachi,MieArima,whohasBombayblood,is
killedbythechiefnurseYukaKasugaiwithanO+bloodtransfusionwhileundergoingaCaesarean
section.
Inthe2011CanadianTVseriesMyBabysitter'saVampire,Ethan,oneofthemaincharacters,issaidto
haveHdeficientblood,whichthevampiresofthestoryconsideradelicacy.
Inthe2012filmGettheGringothevillain(Javi)alsohashhblood.
Inthe2012HindifilmKahaanithemainantagonist(MilanDamji)hashhblood.
InthemangaandanimeKindaichiCaseFiles,thecasetitledLegendoftheVampirehadseveral
characterswiththisbloodtype.
TheStoneColdSteveAustin/DolphLundgrenfilmThePackagerevolvesaroundhhblood.Austin's
characterishiredbyLundgren'stobringhimamysteriouspack,whichturnsouttobeadoseofhhblood.
Inthe2013TamilfilmIdharkuthaneAasaipattaiBalakumarathebloodgroupplaysanimportantrolein
savingthelifeofapregnantwoman.
The2013filmRadhanaGandawasbasedontheBombaybloodgroup.
InanepisodeoftheBBCdramaserialHolbyCity,broadcastJune16,2015,twopatientswithBombay
bloodgroup,aMrQureshiandhisdaughterHayley,requiredsurgerywhichitwasthoughtonlyone
couldhave,astherewasonlyenoughbloodforone.Intheevent,bothweresaved.
InanepisodeDahejKaChakravyuhofIndiancrimeseriesC.I.D.(IndianTVseries),Vishakhaisabout
togetmarriedwithAbhaybuthertobefatherinlawdemandsakidneyfromherfatherinexchangeof
theweddingbecauseMr.UdayhasararebloodgroupnamedBombayBloodGroup.
InaHindiTVshowcalledUdaan,wherethemaincharacterhastherareBombaybloodgroupandis
huntedforit.
Inthe2015episodeofCBS'sNCIS:NewOrleansSeason2Episode07,aCryptoAnalystworkingfor
DARPAwhorevealshimselfhavingtherareHhbloodgroupwasinneedofanewhearttransplantwhich
wascompromisedduringtransportbyanassailantshootingtheheartwithagunkillingitbeforeitcould
betransplanted.NCISgetsinvolvedwhen2NavyParamedicswerekilledduringahousecallandoneof
theMedicssecuritycardswasmissingleadingthestoryintoabalancingoffindingakillerandtryingto
savethelifeoftheAnalyst.
AnepisodeoftheCanadianTVseriesPsiFactor:ChroniclesoftheParanormalhadtheO.S.I.R.team
encounterayoungwomanwithBombaybloodwhileworkingtosolvethecaseofahauntinginthe
undergroundmaintenancetunnelsofamajorcity.

IntheTVseriesStanLee'sLuckyMan(2016)(season1episode6),aplotlinerevolvesaroundan
antagonistwiththebloodtypeinneedofakidneytransplant,whohadamanwiththebloodtypekilled
forhiskidney.

References
1.DeanL.(2005)."6:TheHhbloodgroup".BloodGroupsandRedCellAntigens.Bethesda,MD:NationalCenterfor
BiotechnologyInformation(US).Retrieved20130212.
2."TheHhbloodgroup".Retrieved20120208.

Externallinks
Hh(http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/systems_info&system=hh)at
BGMUTBloodGroupAntigenGeneMutationDatabaseatNCBI,NIH
RMITUniversity(http://www.bh.rmit.edu.au/mls/subjects/abo/resources/frequency4.htm)TheBombay,
paraBombayandotherHdeficiencies
BombayBloodGroup.Org(http://BombayBloodGroup.Org)aninitiativetoconnectindividualswho
donateandwhoareinneedofBombaybloodgroup.
GeneticsoftheBombayPhenotype(http://www.bloodjournal.org/content/bloodjournal/33/1/124.full.pdf?
ssochecked=1)
Retrievedfrom"https://en.wikipedia.org/w/index.php?title=Hh_blood_group&oldid=732986069"
Categories: Bloodantigensystems
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