IT 6 - Thalassemia Pada Anak - DPS

Dr. Dian Puspita Sari, SpA, MKes

Kelainan sel darah merah yang disebabkan oleh berkurang atau tidak disintesisnya rantai globin atau Sel darah merah normalThalassemia

Anemia hemolitik herediter, autosomal resesif

Pertama kali di Amerika dan Italia 1925 -1927

Bahasa Yunani Thalassa berarti laut, emia berarti darah (Mediterania)

Gambaran klinis bervariasi

WHO:

Pembawa sifat 4,5% dari total penduduk duniameningkat 7% tahun 2001Indonesia termasuk negara yang berada dalam daerah thalassemia beltPembawa sifat thalasemia 3-10%Pembawa sifat thalassemia 1,2-11%Hemoglobin E 1,5-36%

Heme: suatu rantai C, H, N yang disebut protoporphyrin IX dan sebuah atom Fero

Globin: terdiri dari 2 pasang rantai polipeptida (141 146 asam amino)

Sheet1

SymbolNameNo. of Amino Acid

aAlpha141

bBeta146

gAGamma A146 (position 136: alanine)

Gamma G146 (position 136: glicine)

dDelta146

eEpsilonUnknown

zZeta141

qThetaUnknown

Sheet2

Sheet3

Jenis hemoglobinJanin / bayi baru lahir, yang terbanyak adalah HbF (2 2) Dewasa : HbA, HbA2

Komponen Hb normal pada individu dewasa:HbA (2 2) : 95-97%HbA2 (2 2) : 2,5 3,5%HbF (2 2) :

Berdasarkan berat ringannya gejala klinis :1. Talasemia mayor2. Talasemia intermedia3. Talasemia minor

Berdasarkan genetik / jenis rantai globinnya :1. Talasemia 2. Talasemia 3. Talasemia dengan struktural variant

Olivieri NF. NEJM 1999;341:99-109

Talasemia trait / minor- mutasi 1 gen globin - tanpa anemia / anemia ringan- tanpa splenomegali, kelainan tulang- asimptomatik- hb normal/rendah- mcv rendah- RDW relatif normal

Hb(g/dl)MCV(fl)MCH(pg)HbF (%) HbA2/HbE(%)ket12-1482-9227-33 1 3,5Normal9-14245-1585-90HbE homozigot

Talasemia intermedia

- mutasi 2 gen- anemia ringan sedang- relatif tergantung transfusi- splenomegali prominen & deformitas tulang- derajat overload besi bervariasi- asimptomatik - berat

Talasemia mayor

- mutasi 2 gen globin yang berat- anemia berat- memerlukan transfusi secara reguler mulai saat bayi- splenomegali & deformitas tulang tergantung efikasi transfusi, overload besi

Talasemia Hemoglobin E

- mutasi 1 gen globin (ringan / berat), kombinasi dengan mutasi Hb E- anemia ringan berat- relatif tergantung transfusi- splenomegali & deformitas tulang- overload besi bervariasi

Pucat kronikOrganomegali/splenomegaliFacies CooleyGizi kurang / burukPerawakan pendekHiperpigmentasi kulitPubertas terlambat

OrganomegaliFacies Cooley

Laboratorium ( esensial) :Darah tepi lengkap : - Hb - Index eritrosit : MCV , MCH , MCHC , RDW (bila tidak ada cell counter, lakukan uji resistemsi osmotik 1 tabung) - Sediaan apus darah tepi : mikrositik, hipokrom, anisositosis, poikilositosis, sel target, fragmentosit, normoblast (+)Analisa Hb 1. Elektroforesis Hemoglobin2. Metode HPLC

Pada keadaan tertentu :Analisa DNA (molekuler)

Analisis hemoglobinHbF : > normal (10-90%)Hb A2: normal / Hb abnormal (Hb E, Hb O, Hb Lepore, etc)

Studi molekularCara untuk mengkonfirmasi atau mendapatkan informasi dengan menggunakan pemeriksaan DNA

Laboratorium ( esensial) :Darah tepi lengkap : - Hb - Index eritrosit : MCV , MCH , MCHC , RDW - Sediaan apus darah tepi : mikrositik, hipokrom, anisositosis, poikilositosis, sel target, fragmentosit, normoblast +

Analisa Hb 1. Elektroforesis Hemoglobin2. Metode HPLC

Pada keadaan tertentu :Analisa DNA (molekuler) Bila pasien sudah pernah mendapat transfusi :Dapat dibantu melalui pemeriksaan darah tepi lengkap kedua orang tua, bila memungkinkan diikuti pemeriksaan analisa Hb

Laboratorium (esensial) :Darah tepi lengkap : Analisa Hb Pada keadaan tertentu :Analisa DNA (molekuler) Analisis DNA dilakukan bila sudah transfusi berulang dan hasil skrining orang tua sesuai dengan pembawa sifat thalassemia atau hasil pemeriksaan esensial tidak khas

NormalDefisiensi besiThalassemia majorThalassemia minor

Analisis Hemoglobin

Anamnesis, Pemeriksaan fisik, LaboratoriumDiagnosis Thalassemia (-)Diagnosis Thalasemia (+) - Mayor- Intermedia

Anemia hipokrom mikrositer:Anemia defisiensi besiAnemia penyakit kronikAnemia sideroblastik

ThalasemiaAnemia Def FeSplenomegali+-Ikterus+-Perub morfologi eritrositTak sebanding dgn anemiaSebanding dgn derajat anemiaSel target+++/-Besi serumTIBCCadangan besikosongFeritin serumHbA2/ HbFN

PENATALAKSANAAN Transfusi DarahTerapi Kelasi Besi SplenektomiTransplantasi sumsum tulangMetode yang bersifat kuratifDonor dari keluarga dekat seperti orang tua, saudara kandungAngka keberhasilan berkisar 45%

5. Terapi Gen Prinsip terapi gen adalah jaringan yang akan dikoreksi (misal sumsum tulang) dapat dipindahkan, diobati dan dikembalikan lagi ke penderita. Terapi ini bertujuan memasukkan kopi normal gen globin yang sehat bersamaan dengan kunci regulator untuk hematopoesis

Transfusi darah pertama kaliHb 7 g/dl disertai Perubahan muka Gangguan pertumbuhan Fraktur tulang Hematopoietik ekstramedulerTransfusiDarah**Bila tersedia, darah diberikan dalam bentuk PRC rendah leukosit (leukodepleted)

Tata Laksana Transfusi darah selanjutnyaHb

Tata Laksana Thalassemia Mayor Transfusi darah pertama kali Keadaan KhususHb >7 g/dl tanpa Perubahan muka Gangguan pertumbuhan + INFEKSI Fraktur tulang Hematopoietik ekstramedulerObati infeksi (max 2 minggu)Hb < 7 g/dlHb > 7 g/dlTransfusiDarah**Bila tersedia, darah diberikan dalam bentuk PRC rendah leukosit (leukodepleted)

Pengobatan Tambahan :- Asam Folat : 1x 1mg/hari- Vitamin E : 2 x 200 IU/hari- Vitamin C : 2-3 mg/kgBB/hari

Hanya diberikan pada saat pemberian DFO (kelasi besi) Max 50 mg pada anak < 10 thn, 100 mg pada > 10 thn Tidak melebihi 200 mg/hari

- Kelasi Besi

Blood transfusion overwhelms the iron balance Normal daily iron flux:

1-2 mg Each unit of PRBC:200-250 mg

Age (years)Number of patients024681012141618200246810121416182022242628303234363840198719971977Without transfusions:

OR

Thalassemia International Federation Guidelines for the clinical management of thalassemia2nd edition, December 2007Recommend that chelation therapy is considered when patients:Transfusion status Have received 1020 transfusionsSerum ferritin level>1000 ng/mL

Transfusional IronComplications due to Iron Overload in ThalassemiaThalassemia Centre, Dept. of PediatricsUniversity of Turin, ItalyHepatic Fibrosis --> Cirrhosis Cardiac arrhythmiaHypogonadismDiabetesHypothyroidismHypoparathyroidismDeathCardiac failure

Grafico3

0

1.642

3.859

7.047

12.554

18.351

24.15

29.488

35.288

41.294

47.037

52.743

58.581

64.588

71.518

77.937

84.945

93.055

102.449

111.672

transfusional iron

Age (years)

Iron (g)

russo

yeariron iniron outin-outiron storestransfusional ironchelated ironage

RUSSODANIELE19780000.000.000.000

RUSSODANIELE19791642016421.641.640.001

RUSSODANIELE19802217022173.863.860.002

RUSSODANIELE1981318829828906.607.050.453

RUSSODANIELE19825507178637219.4312.553.134

RUSSODANIELE19835797400517929.2218.359.135

RUSSODANIELE19845799441813818.3924.1515.766

RUSSODANIELE19855338395613827.7929.4921.697

RUSSODANIELE19865800390019007.7435.2927.548

RUSSODANIELE19876006334026668.7441.2932.559

RUSSODANIELE19885743461311307.5647.0439.4710

RUSSODANIELE19895706240433029.6652.7443.0811

RUSSODANIELE199058382816302211.2858.5847.3012

RUSSODANIELE199160072730327713.1964.5951.4013

RUSSODANIELE199269303852307814.3471.5257.1814

RUSSODANIELE199364193756266315.1377.9462.8115

RUSSODANIELE199470084969203914.6884.9570.2616

RUSSODANIELE199581109302-119213.4993.0579.5717

RUSSODANIELE1996939410036-64212.85102.4589.6018

RUSSODANIELE19979223831990413.75111.6797.9219

russo

000

000

000

000

000

000

000

000

000

000

000

000

000

000

000

000

000

000

000

000

iron stores

transfusional iron

chelated iron

AGE (years)

IRON (grams)

R.D.

di sarlo

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

transfusional iron

AGE (years)

IRON (grams)

R.D., homozygous thalassemia

riepilog

yeariron iniron outin-outiron storestransfusional ironchelated ironage

DI SARLOMIRKO19780000000

DI SARLOMIRKO19791360013601.361.3601

DI SARLOMIRKO19802303023033.6633.66302

DI SARLOMIRKO1981311868624325.7526.7811.0293

DI SARLOMIRKO19824527227722506.863511.3084.44454

DI SARLOMIRKO19835410417112396.01716.71810.7015

DI SARLOMIRKO19845709363020796.28122.42716.1466

DI SARLOMIRKO19855886358722996.786528.31321.52657

DI SARLOMIRKO19864580167329078.85732.89324.0368

DI SARLOMIRKO198766373033360410.944539.5328.58559

DI SARLOMIRKO198855711727384413.92545.10131.17610

DI SARLOMIRKO198956351843379216.795550.73633.940511

DI SARLOMIRKO199053532033332019.09956.08936.9912

DI SARLOMIRKO199160112291372021.673562.140.426513

DI SARLOMIRKO199258692075379424.4367.96943.53914

DI SARLOMIRKO199367672601416627.295574.73647.440515

DI SARLOMIRKO199484172010640732.697583.15350.455516

DI SARLOMIRKO199588802747613338.830592.03353.202517

DI SARLOMIRKO199684582445601344.8435100.49155.647518

DI SARLOMIRKO199751662019314747.9905105.65757.666519

riepilog

000

000

000

000

000

000

000

000

000

000

000

000

000

000

000

000

000

000

000

000

iron stores

transfusional iron

chelated iron

AGE (years)

IRON (grams)

F.S.

COGNOMENOMEANNOIDENTIFIERFE_INTRODFE_ELIMFE_INTR_TFE_ELIM_T

ABU AYASHMUSTAFA'1991TO01BYSHM161191







ACCALAIEMILIA1965TO01CCLML151265


































AGUSSTEFANIA1980TO01GSSTF141080


















ANIANADIA1996TO01NND 2306962860



ARNONELUISA1983ARNLS0000
















AUDINOMAURIZIO1975DNAMRZ0000
























BALBONIROBERTA1967TO01BLBNR060267
































BANINLUANA1979BNNLNU0000




















BARINANDREA1971BRNNDR0000






















BARINANDREA1993BRNNDR





BASSANIDONATELLA1972TO01BSSND151172



























BATTAGLIACARMINE1982BTTCMN0000

















BATTAGLIADOUGLAS1984BTTDGL0000














BATTICCIOTTOROBERTO1969TO01BTTCC210569






























BELLANCAFRANCESCA1986TO01BLLNC140886












BOCCUNICOSIMO1972BCCCSM0000



























BONFANTILEONARDO1985BNFLNRD83000














BOUMBASERENA1985TO01BMBSR2807850000













BOUMBAVERA1983TO01BMBVR2709830000















BOVASONIA1981BVOSNO0000


















BOVOLENTAALESSANDRO1975TO01BVLNT151175























BRIGHINAALESSANDRA1987TO01BCCFS2108870000











CABITZADAVIDE1977CBTDVD0000





















CALLIPOANNA MARIA1983CLLNNA0000
















CAMPISIANTONIO1971TO01CMPSN210571




























CANATODARIO1976CNTDRA0000






















CANDELIEREFRANCO1980CNDLRFRC0000


















CANDELIEREFRANCO1998CNDLRFRC

CANDELIERELUIGI1977CDLRLUI0000



















CANDELIERELUIGI1996CDLRLUI

CANDELIERELUIGI1997CDLRLUI

CANNASLUCIANO1977TO01CNNSL080177






















CANTAFIOMASSIMO1974CNTMSS0000

























CARDELLAALFREDO1974CRDLLLFRD0000



















CARDELLAALFREDO1993CRDLLLFRD





CARDIAANTONIO1976CRDNTN0000























CARRABBAANGELA1973TO01CRRBB271173

























CARRETTALUIGI1975CRRLGU0000























CARTAGRAZIA MARIA1969TO01CRTGR230769





























CASSALIAFEDERICA1994TO01CSSLF201094




CASTRIOTTAALESSANDRO1973CSTLSS0000


























CATANZARITIMARIANNA1983CTNMRN0000
















CATIALESSANDRA1975CTALSS0000
























CAUMARCO1975CAUMRC0000























CAUMARCO1998CAUMRC

CECEREPIETRO1973CCRPTR0000


























CECERESALVATORE1975CCRSLV0000
























CELOZZIPATRIZIA1971TO01CLZZP131171



























CHERCHIFABIO1985CHRFBA0000













CHIERAMAURIZIO1983CHRMRZ346000










CHIERAMAURIZIO1993CHRMRZ





CIVIEROLUANA1983CVRLNA0000















CONCASBARBARA1972CNCBRB0000





















CONCASBARBARA1993CNCBRB





CONCASMARA1977CNCMRA0000





















CONIGLIONATASCIA1984CNGLNTSC0000













CONIGLIONATASCIA1997CNGLNTSC

CONTEUMBERTO1971TO01CNTMB160971




























CORALLOMARINA1985CRLL MRN0000














CORALLOSIMONE1991TO01CRLLS270991








CUMINALEALESSANDRA1974CMNLSS0000
























CURATELOELENA1966TO01CRTLL060466
































CURRELI SUCCUMONICA1973TO01CRRLS040473


























CURRELI SUCCUROSANNA1973TO01CRRLS040473


























DAL BOARIO1986TO01DLBR 240386













D'ALESSANDROM.ANTONIETTA1978D'LM.N0000





















D'ASTAMARIO1976D'SMRA0000























DE ANGELISLINO1973TO01DNGLS151173

























DE FEOMICHELE1981DEMCHL0000

















DE ROSABOMBINA1976TO01DRSBM0805760000























DELIPERIGIUSEPPE1979DLPGSP0000




















DEPPERUEMANUELA1970TO01DPPRM071070





























DI BLASIMASSIMILIANO1974DIMSSM0000



















DI BLASIMASSIMILIANO1993DIMSSM





DI LEOANTONINO1971TO01DLNTN140571




























DI LEONARDOANNA1973DINNAA0000




















DI LEONARDOANNA1993DINNAA





DI SARLOMIRKO1978DIMRKI0000




















DI STEFANOROBERTO1979DIRBRT0000



















DIVIGGIANOANTONELLA1982DVGNTN0000

















DRAMMISANTONIO1990TO01DRMMS030890








DRIDIBRAHIM1996TO01DRDBR150196



DUCAFRANCESCA1975DCUFRN0000
























ERRIQUEZMASSIMO1969TO01RRQZM220469






























FARINELLAANNA1976FRNNNA0000























FARINELLAORAZIO1972TO01FRNLL221272



























FASCIALEDOMENICO1966TO01FSCLD300566

































FICHERACINZIA1975TO01FCHRC101275
























FILANNINOVALENTINA1993TO01FLNNN270193






FIMOGNARIANNA1976FMGNNA0000























FIOTOMASSIMO1981FTIMSS0000

















FIUMEFREDDOMARIO1973FMFMRA0000




















FIUMEFREDDOMARIO1993FMFMRA





FORZAGUIDO1967TO01FRZGD130867































FRANCESCHIELLOANDREA1976FRNNDR0000






















FRANCESCHIELLOELENA1989FRCLN0000









GALLARATEJANIRA1971TO01GLLRT16057100




























GASPAROTTORUDY1979TO01GSPRT240179



















GENTILEGIUSEPPE1973TO01GNTLG2708730000


























GENTILEMANUELA1977TO01GNTLM230577





















GIROTTOGIANNI1975GRTGNN0000
























GRASSODOMENICA1973GRSDMN0000


























GRECOFRANCESCO1978GRCFRN0000




















GRIMALDIANNA1977TO01GRMLD221077






















GUARASCIOALESSANDRO1985GRSLSS479000














IANNONEALBERTO1978NNNLBR0000












IANNON

IT 6 - Thalassemia Pada Anak - DPS

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