2. seminar thalassemia 8 novemver 2012 lelani

7/25/2019 2. Seminar Thalassemia 8 Novemver 2012 Lelani

1/23

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


18/23

>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


21/23

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;.


22/23

.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


23/23

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

2. seminar thalassemia 8 novemver 2012 lelani

Documents