RARE RHCE PHENOTYPES IN BLACK INDIVIDUALS OF AFRO

39 Pages·2002·0.78 MB·English

Blood First EdFirtoiomn w Pwwa.pbeloro,d pjoruernpaul.obrlgi sbhy egdue ostn olnin Jean Auauryg 1u2s, t2 101, 92. 0F0o2r p; eDrsOonI a1l 0u.s1e1 o8n2ly/.blood-2002-01-0229

-ORF AF OSLAUDIVIDN IKCAL BN ISEPYTONEH PECH RERAR
YTEFA SNOISUFSNAR TDN ANOITACIFITNED I :NIGIR ONAEBBIRAC

tazio NecnarF enneri-P 1 ee Lytte K, 2cenne Pe Lsev-Yerrei P, 1nomi Seppilih P, 3 ,
puza KeppilihP 3 rihca Baro D, 2 enn A, duazuo Reira-M 1 lessuo Relèhci M, 1 ,
kazczsu JevèiveneG 1 uaetnané Melicè C, 1reguo Reppilih P, 1 bto Kima R, 1 -n a,eJ
nortra CerreiP 4enneri-Ptras neAnèl é,H 1

tutitsn Idn a)1SGRNC (sniugna Ssepuor Gse decneréfé Re dlanoita NertneC
;sira P,)STNI (eniugna Snoisufsnar Ta le dlanoitaN 2 a le dertneC ,esotyconapérD
;lietér C,rodno Mirne HlatipôH ;n3oinué Ra L,gna Su dsiaçnar FtnemessilbatE
4e cna rs;Fir a,P6 7MURESNI

el ttirTohS tnaira V: ECHR skcal Bn iselella
elkci S,seidobitn ah R,noisufsnar T,slaudividn ikcal B,puor gdool bH R:sdro wyeK
esa elsidlec
)tpircsuna mraluger (enicide Mnoisufsnar T:gnidae Hnoitce ScifitneicS

r oht ugAnidnopserroC
tazio NecnarF ecnar F1 1xede Csira P2255 7,reivuo Beu r0 2,enneri-P
3 021525 513 3:xa F1021525 513 3:enohP
r f.stni@enneri p :liaM.E

tnuo cdroW : 02 2:tcartsba 5 1 t1:p5ircsunaM
1
Copyright 2002 American Society of Hematology
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T CARTSBA
orf An ideretnuocn estnaira vf osdnuorgkca bralucelo mehT kcal Bnaebbira-C
seidobitn atnacifingi syllacinil cf onoitcudor peh to tdetaicoss adn aslaudividni
itna (snegitn aecnedicn-ihgi htsniaga - sepoti pee htRsniag adn a)43Hi-Rtn a,81HR
tcnitsi d3y bdecudor per asepytoneh p8-1:H Rtah tdewoh se W.denimrete derew
ECHR :selell a KEec G8 4gniyrrac >A21 7,) 1noxe (C >A78 7,G >T00 8,G > noxe (A
,)5 IBec G8 4gniyrra c >A21 7,) 1noxe (C >C8 1, 8)n5ox eG( >C231 1,) 6noxe (T > G
nwo nykdaer lea hdt n )an8oxe( RAec G8 4gniyrra celell a >A21 7,) 1noxe (C >G,
C337 >A78 7,G >T00 8,G >A61 9,) 5noxe (A > s iepytoneh p4-3:H Reh T.) 6noxe (G
eh ty bdecudorp ec)C( dirby hn af odesopmo scdn aylsuoiver pdebircse depytolpa h
)-D3-8(ED-C ao ttxe nsnoitatu-martx e 4hti wene g ce sC337 (elell a > ) 5nox e;G
G600 1n7(o x nenioitatu-martx en ahtiw > noitazinumm if oksi rhti weh Rlaitra P.)T
we neh ty bdecudor pe bna csepotip egnikca ltsniaga ce s-artx en agniyrra celell a
C043 (3nox en inoitatum > eh ty bdn a)T OMec A.ylsuoiver pdebricse delell a
f oecnedicn ieh tetamits eo tdeneerc ssa wstneita pesaesi dlle celkci sf onoitalupop
eh ttcete do tderiuqe rs ierudecor patah tnoisulcno ceh thti wselell aera reseht
ro fytefa snoisufsnar terusn eo tredr on isrono dkcal Bn isepytoneh pdetaicossa
t(nair aw v edanebircs eods l ea.Wstneitap ce s)847( tnereffi dgniyrra cstnaira vdn a)
s inoitazinumm if oksi reh tmoh wro fdn astneita pdezinumm ino nn iselell aderetla
. dessucsid
2
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NOITCUDORTNI
.puor gdool bcinegonumm idn acihpromylo ptso meh ts ipuor gdool bH RehT
eh t:sene gsuogolomo hylhgi h2f odesopmo cs isuco lH RehT DHR gnidocn eene g
eh tdn aeditpepylo pDeht ECHR er oErehti ehti wrehtego tcr oCgnidocn eeneg
.seditpepylop 1-3 h 0Rn5a hetr o,m ) ,e ,c ,E,C Ds(negit nraoj ae5m hetdis eB
er ayeh T.debircse der a,seidobitn agnidnopserro ceh ty bdeifitned i,snegitan
wo ln idedivi dyllacitamehcs .snegitn aecnedicnh-igi hdn- a 4
eh t:noitalupo pkcal Beh tn iylevisulcx ednuo fer asepytoneh ph Rera remoS
R (epytoneh p6:-4HR N :H Reh t,) --:H Reh tdn a)evitager-n He(pytoneh p81 34
rH (epytonehp puor gcinht Belue Peh to tdetimi ls iepytoneh p6-4:H Reh T.)evitage-n
.acir fnAi 5 kca leh to tdetaicoss as isnegitn aedn aChto bf onoisserpx edesaerce D
hgi h64H Reh tf onoisserpx efo wo l23H Reh tf oecnaraepp adn anegitn aecnedicn-i -
dirby hn A.negitn aecnedicni )-4(e-DC eC Reh tsetarene gene g N .epytoneh p 6 :-H R
.decudor pseidobitn aeh ty bdeifitned itsri fere wsepytoneh p4-3:H Rdn a81 7 i-tn A
eh tf ostcudor pnommo ceh tgniyrra csCB Rhti wtcae r43H-Ritn adn a81HR ECHR
itn aeh tneh W.sCB Revitiso-peh Rhti wylgnort sero mtu b,eneg debrosd as i81H-R
ek -ei rioe-lctn an as iytivitcae rgniniame reh t,)EEccD (sCB Revitage-neh Rno
itna (91HR-itn adema nydobitna r-h S-eh Rn odebrosd as i43H-Ritn aeh tneh W.)
itna (13H-Ritn adema n,ydobitn aeki-le-Citn an as itlus eer h,tsC BeRvitagen r-h B .) 8-
10 -w o)lS V0(2 HeR h ftnooisserp xee h otdtetaicos syaltnec eerr eswC B4R:-3H R
.negitn aecnedicni 11 i-tn a,81H-Ritn af onoitcudor P 43HR o tsesopm i64Hi-Rtn aro
det e s lrCeeoBvdRitage-nnegitn aera rtnelaviuq eesu hR (sCB Rh-R ro rD- of- )
llun
lle celkci sn iyllaicep s,tnacifingi syllacinil ce bya mseidobitn aeh ts anoisufsnart
.ycnanger pgniru dosl atu b,stneita p)DCS (esaesid 10,12,13,14 e h ftyotir aertips eD
epytoneh peh T.slaudividn i6-4 :H Rro fdezinagr oe bya mytefa snoisufsnar t,doolb
.stneita pro fnezor ftpe ke bna cdool brono d,erofereh t,elbazingoce rylisa esi
-34 :H Rdn a8-1:H Rro fdname ddn aylppu sf osmre tn ixelpmo cero mer asmelborP
3
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er asdnuorgkca bralucelo md ndaeziretcara hlcl etw oen ryae hetsuac esbepytonehp
.nwonknu 15
er astnaira veh Rsuoremu n,sepytoneh p4-3:H Rdn a81:-H RediseB
.noitalupo pkcal Beh tn ideretnuocne 16-21 e h otdtetaicos sea rsatnair aevm oS
Dlaitra pyDbi-tn af onoitcudor peh to tralimi ss itah tya wan ie-it n fanooitcudorp
.noitauti s elaitra peh to tdetcirtse rgnie bytilamronb aeh t,slaudividni 12 ,deed nI
i-tn-aoll agnicudor pslaudividn ieecc Dro fmelbor paosl as iytefa snoisufsnart e sa
snegitn a Edn ae (evitiso-pE heR rdaeriuq e erdblu otwa hstC BeRvitagee-nh Reht
-Eh Resoh to tdesufsnar te btonna c,neh tdn a)pihsnoitale rlacitehtitn an aevah
e bna csCB Rh-Rdetele dr otnaira vralimi syln o,erofereh T.slaudividn ievitagen
.desu
ralucelo meh tdn aytivitcae rlacigolore seh tdeidut se w,kro wsih tnI
,nigir onaebbira-Corf Af oslaudividn ievitiso-peh Rmor fsCB Rf odnuorgkcab
i-tn a,81H-Ritn agnicudorp -itn adn aeci-tn a,i-etn a,43HR e hdtetartsnom e ed.WeC
lahte laderetnuocn eoh wstneita p2ro f81H-Ritn aeh tf oecnacifingi slacinilc
sufsnar telbitapmocn igniwollo femoctuo eseh tf oecnedicn ieh tdetaulav edn anoi
ahti wstnaira vdebircse dosl ae W.stneita pDC Sf onoitalupo pan iselell aerar
tsniag anoitazinumm if oksi reh thcih wro fdn anegitn aeh Rf onoisserpx edesaerced
. tluciffi dgnilesnuo cnoisufsnar tgnika m,nwonkn us isepotip eegnikca leht

4
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SDO HSDTLNEAAMIRETAM
s elpmaS
derrefe rere w,ecnar Fn ignivi l,skcal Bnaebbira-Corf Amor fselpma sdoolB
hR-itn af onoitcudor p:sesa btnereffi dn oydut sro fdetcele sdn ayrotaroba lru oot
e. pytone hep hdResserp erdo/d nsaeidobitna
n arehti egnicudor pslaudividn idetalern umor fdeniatb oere w2-1 1selpmaS
i-e,t n-aoll ar oseditpepylo pECh Reh tgnisserpx esCB Rll ahti wgnitcae rydobitna
-itn adn aei-ctna , 2stneita pf osnrobwe nro felbaliav asa wdool bdro C.seidobitn aeC
ret fdae id8d ns7atneit a.Pstneit aDp CeSr e 0wd1 n ,8as7laudividn I. 7dn a3
ro fdes usa w8laudividn if ostnera peh tmor fAN D.noisufsnar telbitapmocni
osl aere w 1laudividn if ostnera pdn asgnilbi smor fselpma S.sisylan aralucelom
.ydut sro felbaliava
3-17 1selpmaS o tdetalerro cto nsa wtah tnegitn aeh Rdesserpe dadetibihx e
. mure seh tn iydobitn ao nsa wereh T.noitaretl anwon kyna
f oretne Ceh ty bdetcello cylmodna rere wstneita pDC S64 1f oselpma sdoolB
. acirf Alartne Cdn atse W,seidn Itse Wmor fere wstneita P.ecnar F,lietér Cn i,DCS
hR (sCB Rtnaira vnwon kdn asCB Rh Rlamro n:des uere wsCB RlortnoC ,
llun
D - -, ceMO, R N ))84C( e,c 5,18-21 FRAC Seh tmor fsCB R8-1:H R,SGRN Ceh tmorf
.)egnahcx Esdiul Fera Rdn Aslle CmureS(

sisyl alnaacigoloreS
- 1slaudividn iroF are sgnitse ty bdeziretcarah csa wyticificep sydobitn a12,
tsniag aseidobitn agnitanimircsi d)ecnar F,sira P,SGRNC (sCB Rf olena patsniaga
-no nhti w)TAI (tse tnilubolgitn atceridn iGg Iy b,snegitn acinegonumm inommoc
niapa pdn adetaert le gan osCB Rdetaer-t .)dnalreztiw S,taro M,deMaiD (xirta m
h Rtsniag adetse tosl aere wareS nommo cll ahti wgnitcae rare S.sC B- Dd- n Ra
llun
-Dhti wto ntu bsCBR - h Rro/dn a noitpros draet fdaetaula veer e)w0 1-1s(C BR
llun
5
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to nere wtu b)OMe cd ,8-1an:H Rd(ets eetr eswC BeRr arreh t.OsC BEREc cnDo
. mure shca ero felbaliava
-niapa ptsniag aare sll aro fdetaulav eere wsretiT tnereffi df osCB Rdetaert
)TAD (tse tnilubolgitn atceri D.TA IGg Iy b)EEcc D,eeCC D,eeccdd (sepytonehp
itn aeh tmor fsCB Rtsniag amure shca ef oytivitcae rdna ydob -otu ar(ekam )lortno-c
-otu aselpma semo sro F.seidobitn-aotu amor foll ahsiugnitsi do tdemrofre perew
to natad (seidobitn-aoll aere wseidobitn aeh ttah tdemrifno cseidut snoitprosda
.)nwohs
,D ,C ,E ,c e sutats fo s eltlyacor hds tea.yhwrsseitl nbh aettegisnwaeietruor
ehR negitna ytivitcaer saw rehtruf dezylana htiw etarapes senolc )sbAoM(m orf
slacigolore S,notsgniviL( )K.U : MgI ,61SM( ,12SM ,36SM ,26SM ,)96SMG gI
.)07SM( GgI erew detset gnisu eht GgI TAI no a leg xirtam ,deMaiD(, taroM
.)dnalreztiwS . rerutcafuna mema seh tmor fxirta mle glartue nan odetse tere wMgI
noisserpxE fo ecnedicn-iwol snegitna saw detaulave htiw namuh ares :a
mures morf eht SG RgNnCiniatn ohctob 01H-Ritna )V( dna 02H-Ritna )SV(d na
derrefer ni siht yduts saitna ;02/01H-R a mure smorf eh tg nSiGnRiNy aCltnnooc
;23Hi-Rtna 05Hi-Rtna )TTPF( saw deniatbo yb noitprosda noitul-e morf l oM
.mures 22
h-eghiTh ecnedicni myodrofb iltann a ohdl tec nitysaewslag eowi6tpt4nHaR
,do er dbiy beip b9nra se1ichsahHasSaSti-Rte w.Gbd RotnNCnAa e hgtnibros dya
mures fo na dezinummi HR 8-1: tneitap mures( fo laudividni 1 ni siht )ydutsn o
.sC BEREccD 7-1 7.s1C B nRdoets est a9w1H-Ritn asih T
n geynet iwiettlhs eiteabbtrie tsdanp amss oCtdCBn eRe szifaitownaupmmi
demrof r serlpoafudivid n3i dna .5 ehT ytivitcaer fo mures 3 saw osla detsetr etfa
noitul-enoi tnporosda sCBR morf elpmas .5 areS ,1 11 dna 21 erew detsett sniaga
tdsoiendl p tmfnaou sol ml ,aarsmoesidobi trne ah,tyotilibitapm o scO.CnB9BiAR
.selpma sreht oeh tro fgnitse tytilibitapmo cwolla
6
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detcele shti wdemrofre psa wDlaitra pro fgnipytoneh p,selpma sDkae wroF
deniatb oere wsbAo M. Dlaitra pf oseirogeta cetanimircsi do tnwon ksbAoM
,100 2,sira P;699 1,setnaN (sbAo Mn ospohskro Whtruo Fdn adrih Teh thguorht
.)ecnarF

ecan neAauNqDecs lysis
etyco lsuAcNiRte Re rdeewrap emroprf 05 lm fo eloh wdoolb y slasuoiverp
.debircsed 23 d eg bnAii N rse sR ecuhtdissstsn s arnraAetweairNhivrftDtketscnrys
mahsremA( aicamrahP ,hcetoiB ,alasppU .)nedewS ECHR dna DHR A NDc
de iyfb iCselPtrpcemuwadorp ,o to ll,AahPcetno leCs(aremy lqoaptn eehl htKRtiw
,)AC gnisu ylevitcepser remirp stes 3-P1P dna 4P ,5-P neht deifilpmaerg nisu
ylevitce pssteers 3-P2P dna s 5rs-Pen2m oPidirnt pain(di neolcba T.)1 sRC Perew
demrofrep ni a relcycom rreehlTcycoboR( cimoneG tneidarG ,69 ,enegatartSa L
,allo J.)ASU RC Pstcudo rep rdeewnolc boutsni aIIRCP TM g ,nrt ioiAntkToc(lecv
esrtecwu drRooCr /Ppsden natonlacnibm o.c)esRdnalre h,et khe,eTNneeLgortivnI
decneuqes htiw dets egnnicneu qsers e,mciertpne g,olrau tEs()rmeHuig ledBnan o
htob sdnarts yb eht AND gnicneuqeS tiK de i,lspmpeAt(sy sroeitBsoF ,ytiC. )AC
secneuqeS erew dezylana no na detamotuaecnecseroulf desa-b IBA msirP 013(
. )sdseemcienltepsup yqAes erodSeiewBttimbu sot knaBe nreeGdnu ehn toissecca
. 1507 6,474006 7,48834 6,46834 6,46734 6,42234t 64ikna brebmun

sis y clAiaNmnDoaneG
AN Dahti wsetycokue ldool blarehpire pmor fdetalos isa wAN DcimoneG
,I W,nosida M,agemor P,ti Knoitacifiru PAN Dcimone G,draziW (ti Knoitalosi
. )ASU
cimone gn odemrofre pere wsRC Pcificep-snox e,sisylan aecneuqe sroF
gniwollo feh T. 1elba Tn idebircse der asnoitidno cdn asecneuqe sremir P.AND
6 Pte s:des uere wste sremirp 8 Pte s; 3nox ecificep sno nro f7-P - r o9fP DHR snox e
7
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r o9f-P0 1tP e;so-54-t ECHR r o;fo-5t- 4snox e ECHR 1 1tP e,ns6o xe ro fdn a21-P
31 Ptes (21P-31 Pte s, 6nox eDHR - yfilpm ao tdes uosl asa w41P ECHR 6nox e
ro f61-P5 1tP e;s) o-8-t1slaudividn imorf DHR er eswtcudo rR p C.nP7o xe
. sisylan aAND cro fdebircse ds adecneuqe syltceri dr odenolcbus
-elel ls:Ayas sRaCP cificeps e hrt odfengis eedr e)wRC-PPSA (RC Premir p
epy tdli weh T.stneita pDC Sf onoitalupo peh tn isnoitatu mcificep sf onoitceted
PS A) *rat say bdetacidni( eh tenimrete do tlellara pn idemrofre psa wRC-P
P18te S.noitatu meh tf osutat ssuogyzorete hr osuogyzomoh *71-P81 Pdn a71-P
n i,ylevitcepse r,*217 Adn a217 Gtcete do tdes uerew ECHR dehsilbu P. 5nox e
PS Agniwollo feh tn ides uere wseditoelcunogilo 81 Pdn a91-P8 1sPt e:sRC-P - *91P
P-SA n,iylevitceps e,r*33 7dC n3a3 7dGetcet eRdCP ECHR 12-P0 2sPt e ;sn5o xe
n,iylevitceps e,r*600 1dG n6a00 1dTetcet eRdCP-PS A12*-P0 P2dna ECHR no xe
dirby hn adeifilpm aRC-PPS A*32P-22 Pdn a32-P 72s 2t;Pes ED-CHR dn a3nox e
a DHR .ylevitceps e ,rn3o xceifice ps 17 e rReCw-PPS A52-*42 Pdn a52-P4 2sPt eS
n,iylevitceps e,r*766 Gdn a766 Ttcete do tdengised ECHR 6 2sPt e .Sn5o xe 72-P
n ,iylevitcepse r,*043 Cdn a043 Ttcete do tdengise dere wRCP-PS A72-P*62 Pdna
ECHR agniyfilpm a,dedd asa wlortno clanretn in a,syass aRC Pll aro F. 3nox e
eh tf oecneuqe snommoc DHR eh tdn a ECHR 8-2 Ptes (sene g . )92P

S TLUSER

sisyl alnaacigoloreS
rh (91H R,)rH (81H Rro fygolonimre thR S rH (43H R,) B rh (13H Rdn a) B ss)ai
eh ty bdecudor psnegitn aecnedicn ihgi henife d43H Rdn a81H R:wollof ECHR
-itn A.eneg -18 : H yRdbecudo rspeidobit nea het r4a3H-Ritn adn a81HR :H Rdna -34
oripah Sy bdenife ds A.ylevitcepse r,slaudividni 7 e bna cseidobitn aeseh t,
e h.TsC BEREc c nD4o3H-Ritn adn a81H-Ritn af onoitprosd aretf adehsiugnitsid
8
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it n oastelbmes e8r1H-Ritn af oyticificep sgniniamer --itn adema ns idn ae-cit n raeo
eh T.91HR dema ns idn ae-Cit n oastelbmes e4r3H-Ritn af oyticificep sgniniame r
.13Hi-Rtna ll ahti wevita7ge ns itah ttnegae ras ades us i91H-Ritn a,ydut ssih tn I
.negitn aeh Rf ostnaira vera remo shti wosl atu bsCB R8:-1HR 18
spuor geerh totn i21 1-slaudividn if oselpma sdool bdezirogeta ceW
sepytoneh ph RCB Reh td n ) a2elbaT (seiticificep sydobitn aeh to tgnidrocca
:Cpuo r ;G0 1dn a9selpma s:Bpuor G; 8o t1selpma s:Apuor G:) 3elbaT(
puo rhgtruo fA. 2elba Tn idetacidn is inoitazinumm if onigir O.2 1dn a1 1selpmas
ydobitn ao N.) 3elbaT (ytivitcae rh Rsuoenegorete hda h)7-13 1selpma s :DpuorG(
e bdluo cegnellah cnoitazinumm io ntu b,stneita pDpuor gn idetcete dsaw
. detnemucod

1selpmas (are sApuorG 7, 6, 5, 1are S.sCB Rnommo cll ahti wdetcae r)-8
h Rhti wevitage nere w8dna Ddn a gnizingoce rseidobitn agnitacidn isCB- - R
llun
nommoc ECHR h Rhti wevitage nere w4dn a3, 2are S.stcudor psene g t usbC BR
llun
- D-hti wevitisop eh tgnizingoce rseidobitn adeniatno care stah tgnitacidn isCB R
nommoc ECHR -e h nRaor e fsnooitpros draet f.A-Ditn as alle ws a,stcudor pene g
ek i-eiltn an asa wydobitn agniniame reh t,sesa cll an i,)EEccD (sCB Revitagen
aireti rtc eamt aedse h.TsC BeRvitiso-peh Rlamro nll ahti wgnitcae rydobitna
.81H-Ritn ayfitned io toripah Sy bdenifed 7 ro fdemrifno csa wyticificep s81Hi-Rtn A
mor fsCB R8-1:H Rnwon khti wevitage ndetse te bdluo ctah t8dn a7, 5, 4, 3ares
dn a5are sn idnuo fosl asa w-Citn a,sCB REEcc Dn onoitprosd aretf A.FRAC Seht
itn atah tdetacid n)inwo hts oanta ds(C BrReh t noaor e fsnooitpros d.A7 os lsa a-Ew
y-Fitn adn a6dn a1are sn itneserp ro fdaetcelfe rreti teh T. 7mure sn i-Sitn asul p
-itn ayln ogniniatno c, 8mure sro F.seidobitn aeh tf oyticificep seh tmure shcae
-a1r e.SsC BeRecc d ndroehg ish arwet i,t81HR itulgg ato ndi d6 nw orieh tetan
-otu aeh T.seidobitn-aoll aere wdeifitned iseidobitn aeh tll atah tgnitacidn isCBR
9
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7slaudividn if oselpma sro flufgninae mto nere wsisylan aepytoneh pdn alortnoc
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hti wevitiso pere w, ekae wdn aCkae whti weecC Ddepy t,sCB R1 1laudividnI
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