1BñlñtttNlñ

0ltB:
N0BñNNñÞ kBñlRl ßlñ 6BñIñll
Pveseptov:
Ðv. ISKANÐAR SYARII Sp. A (K)
IIÞÐAH!!!AÞ
ThnInssomIn ndnInh koInInnn
bnwnnn dnrI sInfosIs
homogIobIn.
ÐnhuIu dInnmnknn sobngnI
MeJi/eronnion onenio
hIµµIo)
Tnhun l925, Thomns CooIoy
mondoskrIµsIknn sunfu fIµo
nnomIn bornf µndn nnnk-nnnk
ynng bornsnI dnrI IfnIIn.
IIIÐIMIO!OCI
ÐI dunIn l5 jufn ornng momIIIkI µrosonfnsI
kIInIs dnrI fhnInssomIn
Monyornng hnmµIr somun goIongnn ofnIk dnn
fordnµnf µndn hnmµIr soIuruh nognrn dI dunIn.
ThnInssomIn-b
O nognrn-nognrn ModIfornnIn soµorfI YunnnI, IfnII, dnn
SµnnyoI
O AfrIkn !fnrn, IndIn, TImur Tongnh, dnn Iroµn TImur
ThnInssomIn-o dI AsIn Tonggnrn, IndIn, TImur
Tongnh, dnn AfrIkn.
IIIÐIMIO!OCI
MorfnIIfns dnn MorbIdIfns
ThnInssomIn-o mnyor
O hnmµIr somun InhIr dnInm kondnnn Jrope fe/olie
nkIbnf nnomIn bornf
O obornµn noonnfus dongnn fhnInssomIn-o mnyor
ynng borfnhnn sofoInh mondnµnf frnnsfusI
InfrnuforIn
ThnInssomIn-b morfnIIfns dnn morbIdIfns
borvnrInsI sosunI fIngknf koµnrnhnn dnn kunIIfns
µornwnfnn.
IIIÐIMIO!OCI
Ieio
orvnrInsI socnrn sIgnIfIknn
Indn µnsIon dongnn knsus-knsus
ynng µnrnh dnn fomunn homnfoIogIk
µndn µombnwn corrier) fnmµnk joIns
µndn snnf InhIr.
Indn fhnInssomIn-b bornf µnruh
kodun fnhun µorfnmn kohIduµnn
onfuk fhnInssomIn rIngnn sorIng
dIfomuknn socnrn kobofuInn µndn
borbngnI usIn
IATOIISIO!OCI
Ionurunnn µroduksI dnrI snfu nfnu IobIh rnnfnI
gIobIn forfonfu o,b,y,o) monghonfIknn sInfosIs
Hb kofIdnksoImbnngnn knronn forjndInyn
µroduksI rnnfnI gIobIn InIn ynng normnI.
Ðun fIµo rnnfnI gIobIn o dnn non-o) borµnsnngnn
nnfnrn snfu snmn InIn dongnn rnsIo hnmµIr l:l
µroduksI borIobIhnn rnnfnI gIobIn normnI
nkumuInsI rnnfnI forsobuf dI dnInm soI fIdnk
sfnbII dosfruksI soI
IATOIISIO!OCI
TIµo fhnInssomIn mombnwn nnmn dnrI rnnfnI
ynng foroduksI
KonsokuonsI dnrI gnnggunn µroduksI rnnfnI
gIobIn borkurnngnyn doµosIsI Hb µndn soI
dnrnh mornh hIµokromnfIk)
ÐofIsIonsI Hb soI dnrnh mornh monjndI IobIh
kocII gnmbnrnn kInsIk fhnInssomIn ,3emI,
LIpokvomIk mIkvosItIk.
K!ASIIIKASI THA!ASSIMIA &
I!ISIÞTASI K!IÞISÞYA
Tordnµnf dun fIµo ufnmn :
O ThnInssomIn-b
O ThnInssomIn-o
1BñlñtttNlñ ñlPBñ
THA!ASSIMIA A!IHA
AnomIn mIkrosIfIk ynng dIsobnbknn oIoh
dofIsIonsI sInfosIs gIobIn-o nkIbnfnyn hIInngnyn
gon o µndn kromosom l6
S1L1AT CAII11I THA!ASSIMIA A!IHA
O TIµo fhnInssomIn subkIInIk ynng µnIIng
umum, bInsnnyn dIfomuknn socnrn kobofuInn
dInnfnrn µoµuInsI
O IondorIfn sohnf socnrn homnfoIogIs, hnnyn
dIfomuknn jumInh orIfrosIf ynng rondnh
dnInm bobornµn µomorIksnnn.
O IomorIksnnn dnrnh Iongknµ µndn snInh snfu
ornngfun hIµokromIn dnn mIkrosIfosIs fnnµn
µonyobnb ynng joIns
THA!ASSIMIA A!IHA MAYO!
O onfuk fhnInssomIn ynng µnIIng bornf
O Hb nrfs y
4
) mondomInnsI µndn bnyI ynng
mondorIfn y
4
momIIIkI nfInIfns oksIgon fInggI
hIµoksIn bornf
O IrIfrosIfnyn jugn mongnndung sojumInh kocII
Hb ombrIonnI normnI, ynng borfungsI sobngnI
µongnngkuf oksIgon.
O Kobnnynknn dnrI bnyI-bnyI InI InhIr mnfI
O nyI InI snngnf hIdroµIk, dongnn gngnI
jnnfung kongosfIf dnn odomn nnnsnrkn bornf
Jrope fe/olie)
IOPS I1TAL1S
1BñlñtttNlñ ßt1ñ
THA!ASSIMIA ITA
S1L1AT CAII11I THA!ASSIMIA ITA
O AsImfomnfIk hnnyn dIfomuknn nIInI orIfrosIf
ynng rondnh
O MufnsI ynng forjndI snngnf rIngnn, dnn
moroµrosonfnsIknn sunfu fhnInssomIn-b
+
.
O TIdnk monImbuIknn koInInnn ynng dnµnf
dIIdonfIfIknsI µndn IndIvIdu hoforozIgof, fofnµI
jIkn dIwnrIsknn borsnmn-snmn dongnn gon
unfuk fhnInssomIn-b°, monghnsIIknn sIndrom
fhnInssomIn InformodIn.
THA!ASSIMIA-I° HOMOZICOT
AÞIMIA COO!IY, THA!ASSIMIA MAYO!)
O AnomIn homoIIfIk kronIs ynng µrogrosIf
soInmn 6 buInn kodun kohIduµnn
O Tnnµn frnnsfusI, 80° µondorIfn monInggnI
µndn 5 fnhun µorfnmn kohIduµnn.
O Indn knsus ynng fIdnk dIfornµI hIµorfrofI
jnrIngnn orIfroµoofIk dIsumsum fuInng
mnuµun dI Iunr sumsum fuInng oksµnnsI
mnsIf sumsum fuInng dI wnjnh dnn fongkornk
monghnsIIknn bonfuk wnjnh ynng khns.
!Imµn dnn hnfI
mombosnr knronn
homnfoµoosIs
oksfrnmoduIor dnn
homosIdorosIs
Iorfumbuhnn
forgnnggu µndn nnnk
ynng IobIh fun;
µuborfns forInmbnf
nfnu fIdnk forjndI
knronn koInInnn
ondokrIn sokundor
KoInInnn morfoIogI orIfrosIf oksfrom
hIµokromIn dnn mIkrosIfosIs bornf
µoIkIIosIf ynng forfrngmonfnsI
SoI bIznrro
SoI fnrgof
IrIfrosIf borInfI
O Kndnr Hb furun socnrn coµnf monjndI < 5 gr/d! kocunII
mondnµnf frnnsfusI.
O Kndnr sorum bosI fInggI dongnn snfurnsI knµnsIfns
µongIknf bosI iron IinJing copoci/).
O K,/,v HbI y,3 s,3,t tI3I /,,m evItvosIt.
AÞIMIA COO!IY
1tRñPl 1BñlñtttNlñ
ÐIµorIuknn konsoIIng µndn somun µondorIfn
dongnn koInInnn gonofIk, khususnyn morokn
ynng momIIIkI nnggofn koIunrgn ynng borIsIko
TrnnsfusI dnrnh hnrus dImuInI µndn usIn dInI
kofIkn nnnk muInI mongnInmI gojnIn
T!AÞSI!SI ÐA!AH
orfujunn unfuk momµorfnhnnknn nIInI Hb
fofnµ µndn IovoI 9-9.5 gr/d! soµnnjnng wnkfu.
!ogImon ynng ndokunf :
l0-l5 m!/kg I!C dongnn kocoµnfnn 5 m!/kg/jnm
sofInµ 3-5 mInggu
KOMI!IKASI T!AÞSI!SI ÐA!AH
KomµIIknsI ufnmn frnnsmIsI bnhnn InfoksIus
nfnuµun forjndInyn iron oterlooJ
IondorIfn fhnInssomIn mnyor bInsnnyn IobIh
mudnh unfuk forkonn InfoksI dIbnndIng nnnk
normnI, bnhknn fnnµn frnnsfusI.
TI!AII KHI!ASI IIÞCIKAT ISI)
Ðnµnf monundn onsof dnrI koInInnn jnnfung dnn,
µndn bobornµn µnsIon
Celo/ing ogen/ ynng bInsn dIµnknI
doforoksnmIn ÐIO) komµIoks hIdroksIInmIn
dongnn nfInIfns fInggI forhndnµ bosI
Tujunn fornµI : unfuk moncnµnI kosoImbnngnn
bosI nognfIf
Knronn ÐIO fIdnk dIsornµ dI usus, mnkn rufo
µomborInnnyn hnrus moInIuI µnronfornI
Infrnvonn, InfrnmuskuInr, nfnu subkufnn).
ÐosIs fofnI : 30-40mg/kg/hnrI dIInfusknn soInmn
8-l2 jnm soInmn 5 hnrI/mInggu.
T!AÞSI!AÞTASI SI! STIM
HIMATOIOITIK TSSH)
Snfu-snfunyn fornµI kurnfIf unfuk fhnInssomIn
IrognosIs buruk µnscn TSSH :
O HoµnfomognII
O fIbrosIs µorfnI
O fornµI khoInsI ynng InofokfIf soboIum frnnsµInnfnsI
IrognosIs bngI µondorIfn ynng momIIIkI kofIgn
knrnkforIsfIk InI ndnInh 59°, sodnngknn µndn
µondorIfn ynng fIdnk momIIIkI kofIgnnyn ndnInh
90
IndIvIdu forfonfu µorIu forus mondnµnf fornµI
khoInsI sofoInh TSSH monghIInngknn znf bosI
ynng borIobIhnn.
II\STRASI KAS\S
IУNTITAS PASI£N
Þnmn : I
!mur : 2 fnhun 6 buInn
JonIs koInmIn : Ioromµunn
AInmnf: Indnng
TnnggnI mnsuk: 2 Agusfus 20l0
Ao,3,m3esIs (/IbevIk,3 oeL Ibu
k,3/u3):
Soornng nnnk µoromµunn umur 2 fnhun 6 buInn
dIrnwnf dI bnngsnI nnnk !S!I Ðr. M. ÐjnmII
Indnng sojnk 2 Agusfus 20l0 dongnn:
KeuL,3 \t,m,:
Tnmµnk µucnf sojnk ? hnrI ynng InIu.
RIw,y,t Pe3y,kIt Sek,v,3:
Tnmµnk µucnf sojnk ? hnrI ynng InIu, somnkIn
Inmn somnkIn µucnf.
Ðomnm sojnk 3 hnrI ynng InIu, fIdnk fInggI, fIdnk
forus monorus, fIdnk monggIgII, fIdnk
borkorIngnf, fIdnk kojnng.
nfuk µIIok fIdnk ndn.
Sosnk nnfns fIdnk ndn.
!Iwnynf µordnrnhnn dnrI gusI, snIurnn cornn,
dnn hIdung fIdnk ndn.
Munfnh-munfnh fIdnk ndn.
unng nIr kocII jumInh dnn wnrnn bInsn.
unng nIr bosnr wnrnn dnn konsIsfonsI bInsn.
RIw,y,t Pe3y,kIt Ð,Luu:
Annk foInh dIkonnI mondorIfn fhnInssomIn b
mnjor sojnk umur ? buInn, muIn mondnµnfknn
frnnfusI Inckod !od CoII I!C), fornkhIr
frnnsfusI 24-6-20l0.
RIw,y,t Pe3y,kIt Keu,v,
3 knknk knndung µnsIon mondorIfn µucnf
dnn monInggnI µndn usIn ll buInn, l0 buInn dnn
9 buInn.
RIw,y,t ke,LIv,3:
Annk ko-6 dnrI 6 borsnudnrn, InhIr sµonfnn,
dIfoIong bIdnn, ! 2800grnm, I! 48 cm,
Inngsung monnngIs.
RIw,y,t mI3um,3m,k,3,3:
ASI umur 0-l2 buInn
ubur susu umur 4-9 buInn
ÞnsI fIm 9-l2buInn
ÞnsI bInsn umur l fnhun - soknrnng
RIw,y,t Imu3Is,sI:
CC: umur l buInn, scnr +)
ÐIT: umur 2 buInn, 4 buInn, 6 buInn
IoIIo: umur 2 buInn, 4 buInn, 6 buInn
HoµnfIfIs : -)
Cnmµnk : -)
Kosnn : !Iwnynf ImunIsnsI fIdnk Iongknµ
RIw,y,t pevtumbuL,3 1IsIk
Tongkurnµ 4 buInn
Ðuduk ? buInn
ordIrI l0 buInn
orjnInn llbuInn
Icnrn l2 buInn
Kosnn: !Iwnynf µorfumbuhnn dnn
µorkombnngnn dnInm bnfns normnI
RIw,y,t I3ku3,3 /,3 pevum,L,3:
!umnh/ fomµnf fInggnI: rumnh µormnnon
Sumbor nIr mInum: sumur gnII
unng nIr bosnr: C dI Iunr rumnh
Iorknrnngnn: cukuµ Iuns.
Snmµnh: ÐIkumµuIknn ko dnInm Iubnng.
Kosnn: HygIono dnn snnIfnsI kurnng.
PemevIks,,3 \mum:
Kondnnn umum: snkIf sodnng
Kosndnrnn: KomµosmonfIs kooµornfIf
Toknnnn dnrnh: 90/50 mmHg
IrokuonsI nndI: l00 x/monIf
IrokuonsI nnfns: 24x/monIf
Suhu: 3?°C
T: 92cm : l2.5kg
/!: 80,6° T/!: 92° /T: 96,l°
Kosnn: CIzI bnIk
SInnosIs: fIdnk ndn
Idomn: fIdnk ndn
AnomIs: ndn
Ikforus: fIdnk ndn
KuIIf: fnmµnk µucnf.
KC: fIdnk fornbn µombosnrnn koIonjnr gofnh
bonIng
KoµnIn: buInf, sImofrIs.
!nmbuf: hIfnm, fIdnk mudnh dIcnbuf.
Mnfn: KonjungfIvn nnomIs, scIorn fIdnk IkforIk,
µuµII Isokor, dInmofor 2mm, rofIox cnhnyn +/+
ToIIngn : fIdnk dIfomuknn koInInnn
HIdung: fIdnk dIfomuknn koInInnn
Tonggoroknn: TonsII Tl-Tl fIdnk hIµoromIs,
fnrIng fIdnk hIµoromIs.
CIgI dnn muIuf: mukosn bIbIr dnn muIuf bnsnh.
!ohor : JVI 5- 2 cmH
2
O
Ðndn: Inru:
InsµoksI: Þormochosf, sImofrIs kIrI dnn knnnn
InIµnsI: fromIfus kIrI snmn dongnn knnnn
IorkusI: Sonor
AuskuIfnsI: vosIkuIor, ronkhI-/-), whoozIng -/+)
Jnnfung:
InsµoksI: Ikfus fIdnk forIIhnf
InIµnsI: Ikfus fornbn l jnrI modInI !MCS !IC V
IorkusI: bnfns jnnfung nfns: !IC II
Knnnn: !SÐ
KIrI: l jnrI modInI !MCS !IC V
AuskuIfnsI : unyI jnnfung normnI, Irnmn
fornfur, bIsIng -).
Ioruf:
InsµoksI: ÐIsfonsI -)
InIµnsI: SuµoI, hoµnr fornbn l/4-l/4
konynI, rnfn,µInggIr fnjnm. !Ion S
l
.
IorkusI: TImµnnI.
AuskuIfnsI: IsIng usus +) normnI.
Iunggung: TIdnk dIfomuknn koInInnn.
AInf koInmIn: TIdnk dIfomuknn koInInnn, sfnfus
µuborfns Al,Ml,Cl
Anggofn gornk: AkrnI hnngnf, µorfusI bnIk, rofIok
fIsIoIogIs +/+, rofIok µnfoIogIs -/-
PemevIks,,3 I,bov,tovIum:
TnnggnI 2 Agusfus 20l0:
Ðnrnh: HomogIobIn: 6,4 gr/dI
!oukosIf: 6900/mm
3
HIfung jonIs IoukosIf: 0/3/5/26/64/2
ÐI,3osIs kevJ,:
ThnInssomIn b mnjor
Tev,pI:
M l500kknI
VIfnmIn comµIox + C 2xl
TrnnfusI I!C
Ioow \p:
TnnggnI 3 Agusfus 20l0:
S: domnm fIdnk ndn
Annk mnsIh fnmµnk nnomIs
MunI munfnh fIdnk ndn.
Sosnk nnfns fIdnk ndn.
AK dnn A bInsn.
O: snkIf sodnng, sndnr, H!: 98x/I, !!: 24x/I, T:
36,8°C
Mnfn: konjungfIvn nnomIs, scIorn fIdnk IkforIk
Thornks: cor dnn µuImo dnInm bnfns normnI
Abdomon: dIsfonsI -), hoµnr l/4-l/4, IIon
S
l
,IsIng usus +) normnI
IksfromIfns: nkrnI hnngnf, µorfusI bnIk
Kosnn: AnomIs
TnnggnI 4 Agusfus 20l0
S: ToInh mnsuk I!C 2 knnfong ¸ l25cc.
Ðomnm fIdnk ndn.
nfuk µIIok fIdnk ndn, sosnk nnfns fIdnk ndn.
MunI munfnh fIdnk ndn.
AK wnrnn dnn jumInh bInsn.
O: SnkIf sodnng, sndnr, H!: 88x/I, !!: 24x/I, T:
3?°C. Hb:9,5gr/dI
Mnfn: konjungfIvn nnomIs, scIorn fIdnk
IkforIk.
Thornks: cor dnn µuImo dnInm bnfns normnI.
Abdomon: dIsfonsI -), bIsIng usus +) normnI
IksfromIfns: nkrnI hnngnf, µorfusI bnIk.
Kosnn: nnomIs.
ÐAITAR P\STAKA
ohrmnn, KIIogmnn, ArvIn. ÞoIson : IImu Kosohnfnn
Annk VoIumo 2. IdIsI ko-l5. Jnknrfn : ICC ; l996
Hny , !ovIn MJ. Curronf ÐIngnosIs nnd
Tronfmonf In IodInfrIcs. l8fh IdIfIon. Þow York :
!nngo ModIcnI ooks/ McCrnw HIII IubIIshIng
ÐIvIsIon ; 200?
Iormono , Sufnryo, dkk. uku Ajnr HomofoIogI-
OnkoIogI Annk Cofnknn Kodun. Jnknrfn : Iknfnn
Ðokfor Annk IndonosIn ; 2006
YnIsh HM. ThnInssomIn. JuIy 29, 2009. AvnIInbIo nf :
hffµ://omodIcIno.modscnµo.com/nrfIcIo/958850-
foIIowuµ
T£RIMAKASIH

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