2. seminar thalassemia 8 novemver 2012 lelani
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7/25/2019 2. Seminar Thalassemia 8 Novemver 2012 Lelani
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TATA LAKSANA THALASSEMIA PADA ANAK
Lelani Reniarti
Divisi Hematologi-Onkologi, Bagian Ilmu Kesehatan Anak FKUNPAD R!H!
I. PENDAHULUAN
"halassemia meru#akan kelainan $arah aki%at ter&a$in'a gangguan $alam
#roses sintesis rantai glo%in $an meru#akan anemia hemolitik here$iter 'ang
$iturunkan se(ara autosomal resesi)*+-Kelainan ini %an'ak $itemukan #a$a etnik
tertentu 'ang terse%ar $ari e$iterania ke "imur "engah, In$ia, Birma $an Asia
"enggara, termasuk In$onesia meru#akan salah satu $aerah 'ang termasuk #a$a
#en'e%arann'a*.-/ "halassemia meru#akan #en'akit monogenik tersering $i$unia,
$an saat ini telah men&a$i masalah kesehatan utama $i $unia* .,0 !etia# tahun akan
lahir 11*111 - .11*111 %a'i $engan ge&ala terse%ut, 'ang se%agian %esar
$iantaran'a meninggal $alam kea$aan tak ter$iagnosis atau ti$ak men$a#at
#engo%atan 'ang te#at*.,0
Di In$onesia, sekitar +12 #en$u$uk a$alah #em%a3a gen "halassemia-4 atau
H%5*/
Data $ari %agian Ilmu Kesehatan Anak Rumah !akit $r* Hasan !a$ikin
menun&ukkan ter$a#at kenaikan #en$erita thalassemia 'ang $atang %ero%at $an
men$a#at trans)usi $arah $i klinik "halassemia R!H! 'aitu sekitar 67 #en$erita
thalassaemia #a$a tahun 7118, .01 #a$a tahun 7119, 0/9 #en$erita #a$a tahun 71+1,
hingga saat ini #a$a a3al tahun 71++ ter(atat /0/ #en$erita* :HO ;7117O" $an !>P" setia#
%ulanFeritin, setia# %ulan
17
Lokakar'a !osialisasi Pela'anan @aminan Pela'anan Thalassemia.;@am#elthas
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7/25/2019 2. Seminar Thalassemia 8 Novemver 2012 Lelani
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>am%ar 0* Pan$uan monitoring Kele%ihan %esi #a$a "halassemia
!um%er PH"DI ;71++eneti( insights into the (lini(al $iversit' o) 4- thalassaemia, British
@ournal o) Haematolog', 711. +7., 7/.=76.*
+6 :eatherall D@. Fortnightl' revie3? "he thalassaemias$01+996 +.?+/60
+8 "hein !:* Thalassemia syndrome-0olecular $asis of 'isease >eneti( mo$i)iers
o) 4-thalassemia* Haematologi(a 711091?/.9-//1
+9 Ro3e * "he thalassemias an$ relate$ $isor$ers* Pro( ;Ba'l Univ e$ Ment
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1 Lukens @N* "he thalassemias an$ relate$ $isor$ers? Suantitative $isor$ers o)
hemoglo%in s'nthesis* Dalam? Lee >R, Bithell ", Foerster @, Athens @, Lukens @,
#en'unting* :intro%eWs (lini(al hematolog', e$isi ke-9* Phila$el#hia? Lea Fe%iger
Mo +99* h*++17-
+ Antonio Mao RenEo >alanello. Beta-"halassemia*7ene+evie8s* Latest version?
O(to%er 7, 7116* "erse$ia #a$a? htt#?333*n(%i*nlm*nih*gov%ookshel)%r*)(giX
%ookYgene#artY%-thal
7 >eorge B* !egel, i(hael >* Hirsh, an$ !te#hen A* Feig*anaging Anemia in
Pe$iatri( O))i(e Pra(ti(e? Part +*Pe$iatr* Rev*, ar 7117 7? 60 - 8.*
Olivieri NF, Nathan D>, a(ilan @H, :a'ne A!, Liu PP, (>ee A* !urvival an$
me$i(all' treate$ #atients 3ith homoE'gous - thalassemia* Ne3 5ngl @ e$*
+99.+?06.-8*
. Ma##ellini N*, Mohen A*, 5le)theriou A*, Piga A*, Porter @*, "aher A* Bloo$
"rans)usion "hera#' in Z4-"halassaemia a&or* in >ui$elines )or the Mlini(al
anagement o) "halassaemia* "IF 71167n$ #?+8-1
0 Pro##er RD, Button LN, Nathan D>* Ne3 A##roa(hes to the tran)usion
management o) thalassemia* Bloo$* +98100?00-/1*/ Ma##ellini N*, Mohen A*, 5le)theriou A*, Piga A*, Porter @*, Bloo$ "rans)usion
"hera#' in Z4-"halassaemia a&or* in >ui$elines )or the Mlini(al anagement o)
"halassaemia* "IF 7117 +st5$* #?9-+0
6 Ma##ellini N*, Mohen A*, 5le)theriou A*, Piga A*, Porter @*, !#lene(tom' in 4-
"halassaemia a&or* in >ui$elines )or the Mlini(al anagement o) "halassaemia*
"IF 7116 7n$5$* #? ++/-+71
8 Porter @B* Iron Overloa$ Diagnosis, "reatment,an$ anagement >oals* In
!'m#osium u#$ate* +7th Mongress o) 5HA, @une 6 - +1, 7116*ienna, Austria*
"erse$ia #a$a htt#?333*iron(urri(ulum*esh*orgA(tivit'+8+9[1.+8+9*1.-
Ne3sletter*#$)
9 !hamshirsaE AA, Bekheirnia R, Kamgar , PourEahe$gilani N, BouEari N,
Ha%i%Ea$eh * eta%oli( an$ en$o(rinologi( (om#li(ations in %eta-thalassemia
ma&or? a multi(enter stu$' in "ehran* BM 5n$o(rine $isor$ers, 711;.
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.1 Dmo(ho3ski K, Finegoo$ D, Fran(om%e :, "'ler B, \inman B* Fa(tors $etermining
glu(ose toleran(e in #atients 3ith thalassemia ma&or* @ Mlin 5n$o(rinol eta%*
+9966?.68-8*
.+ >run$' R>, :oo$s KA, !avage @O, 5vans @P* Relationshi# o) en$o(rino#ath' to
iron (helation status in 'oung #atients 3ith thalassemia ma&or* Ar(h Dis Mhil$*
+99.6+?+78-7*
.7 Porter @P* I* Pharma(okineti(s, eta%olism an$ "oJi(it' o) De)eroJamine an$ Other
Iron Mhelators5 $alam !e(on$ar' iron Overloa$* Hematolog' 711+* "he Ameri(an
!o(iet' o) Hematolog'*
. Mhelators )or Iron Overloa$* Diakses #a$ahtt#?si(kle*%3h*harvar$*e$u(helators*html $irevisi #a$a 8 Okto%er, +999*
.. 5rnest Beutler, A* i(tor Ho))%ran$ an$ @ames D* Mook * Iron $e)i(ien(' an$
overloa$* ematology 4*"he Ameri(an !o(iet' o) Hematolog'*
.0 Kushner @P*, Porter @P*an$ Olivieri NF* !e(on$ar' iron Overloa$* Hematolog' 711+*
"he Ameri(an !o(iet' o) Hematolog'* Diakses melalui
htt#?333*ashe$u(ation%ook*org(gi(ontent)ull711++.6
./ Banner :* :ool)AD* De)eroJamine* International #rogramme on (hemi(al sa)et'
evaluation*;:HOILOUN5P* Barosi, M* Mamas(hella, * D* Ma##ellini, * MaEEola, R*
>alanello, * ar(hetti, A* Piga, an$ !* "ura*Italian !o(iet' o) Hematolog' #ra(ti(e
gui$elines )or the management o) iron overloa$ in thalassemia ma&or an$ relate$
$isor$ers*Haematologi(a, a' +, 7118 9;0
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0+ Pennell D@, Ber$oukas , Karagiorga , et al* Ran$omiEe$ (ontrolle$ trial o)
$e)eri#rone or $e)eroJamine in %eta-thalassemia ma&or #atients 3ith as'm#tomati(
m'o(ar$ial si$erosis*$lood.711/+16 ;9
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