THALASSEMIA

Novie Amelia Chozie, Pustika Amalia Wahidiyat

 DEFINISI
Thalassemia
Akibat berkurang /tidak disintesisnya
Kelainan eritrosit bawaan rantai globin -α/-β pembentuk Hb utama
HUKUM MENDEL manusia.
 DEFINISI
Hemoglobin normal
Terdiri atas:
 HbF (α, γ)
 HbA (α, β)  Hb UTAMA
Dibentuk oleh HEME (Fe)
 HbA2 (α, δ)

Dan GLOBIN
(sepasang rantai
globin-α dan -β)
Penyebaran Thalassemia

Mengapa penting?

Penyebaran thalassemia mengikuti

“ikat pinggang thalassemia”

Termasuk Indonesia
Distribusi frekuensi gen (%) pembawa sifat
thalassemia beta & HbE di Indonesia

Eijkman Institute
Distribusi PasienThalassemia di Indonesia
Sampai Oktober 2016: 9.121 pasien tercatat dari seluruh Indonesia

300
115 147

BANTEN 16
579 125
60 40
3300
231
12
200 NTB-NTT
60 LAMPUNG
2200
40

UKK Hematologi-Onkologi 2016

KLASIFIKASI
Klinis

Thalassemia mayor
Membutuhkan transfusi darah rutin

Thalassemia intermedia
Gejala ringan, membutuhkan transfusi darah
tetapi tidak rutin

Thalassemia minor/trait/pembawa sifat

Tidak bergejala, tidak membutuhkan transfusi
darah, hidup normal
 KLASIFIKASI
Genetik

Thalassemia–β: kelainan pada rantai protein -β

Thalassemia–α: kelainan pada rantai protein -α

Thalassemia–αβ: kelainan pada rantai protein -α dan -β

Thalassemia–β/HbE: gabungan antara kelainan rantai-β dan –HbE

(Hb pathy)
 Komplikasi
Thalassemia Sel darah merah hancur Anemia

Transfusi terus Besi dari transfusi

Anemia kronik Penumpukan besi
Tidak transfusi Absorpsi besi naik
120 Kematian

100 Gagal jantung

Hipoparatiroidisme
80
Hipotiroidisme
Besi (gr)

60
Diabetes

40 Hipogonadisme

Aritmia jantung
20
Fibrosis hati Sirosis hati
0
1 3 5 7 9 11 13 15 17 19
Thalassemia Centre, Dept. of Pediatrics
Usia (tahun) University of Turin, Italy
 Diagnosis thalassemia minor
Klinis Pemeriksaan laboratorium
Darah tepi lengkap:
Tanpa gejala –
sama seperti • Hb: N / ↓
orang normal • MCV ↓ , MCH ↓, RDW N / ↑
• Retikulosit ↑
• Jumlah eritrosit ↑
Analisis Hb: nilai Hb A2 meningkat

Thalassemia Normal
minor
 Diagnosis thalassemia mayor
Klinis Pemeriksaan fisis
 Homozigot: usia dini  Pucat/ikterik
 Heterozigot ganda: usia > tua  Gizi kurang
 Pucat kronik  Hiperpigmentasi
 Ikterik  Facies Cooley
 Gangguan pertumbuhan  Perawakan pendek
 Pubertas terlambat  Organomegali
 Gizi kurang
 Riwayat keluarga +
 Manifestasi Klinis
Hepar
Jantung
Penumpukan besi
Kelenjar endokrin
Tulang
Hiperpigmentasi Kulit
Kulit
Tanda Klinis

Facies Cooley
Organomegali Gangguan tulang
 Tatalaksana
Idealnya: Hb pra-transfusi 9-10 g/dL.
 Tujuan: Tumbuh optimal
 Target Hb pasca-transfusi: 12-13 g/dL
Hati-hati reaksi transfusi: Ringan  syok anafilaksis.

Risiko a.l.: Hepatitis B, C, dan HIV, sifilis, CMV

REKOMENDASI:

PRC leukoreduksi/ leucodepleted/filter + NAT, bila mungkin

Reaksi transfusi (+): PRC cuci (wash PRC).

Donor tetap non keluarga

 Terapi Kelasi Besi

Kontrol NTBI , LPI , Output besi ~ input

Monitor efek
dan besi bebas
intraseluler selama
besi dari transfusi
toksik besi
24 jam Keseimbangan besi
selama 24 jam
Mencegah kerusakan Mencegah kerusakan
organ akibat besi organ akibat besi
Kelasi besi
adekuat

Butuh beberapa
waktu untuk menjadi
Cadangan
iron overload

besi normal
Batas aman
penumpukan besi
tiap organ berbeda LPI, labile plasma iron
NTBI, non-transferrin-bound iron

Tujuan utama: Mengeluarkan kelebihan besi untuk menghindari efek samping

dari kelebihan besi pada organ tubuh
 DISTRIBUSI PENYIMPANAN BESI

Produksi faktor
Sumsum tulang kelenjar
0,1% 1,0% pembekuan darah

Kulit
0,2%
Limpa Gangguan
3,7% fungsi hati
Otot Hati 79%
12,8%
Ginjal
0,9% LIC dapat memperkirakan
Otot jantung total penyimpanan besi
1,4% pada thalassemia mayor

Pankreas
1,1%

Modell B. Br Med Bull 1976;32:270

Angelucci E, et al. N Engl J Med. 2000;343:327-31
 Diagnosis thalassemia mayor
LAB SEDERHANA:
Rerata Hb pra-transfusi 6 g/dL ANALISIS HB:
MCV < 8O fL
MCH < 27 pg
Hb F
RDW ↑↑: > 26% dan
Retikulosit ↑ ↑ Hb A2
meningkat Thalassemia-β
Jumlah eritrosit ↑

Normal Thalassemia mayor Thalassemia-β/HbE

ORO-FACIAL MANIFESTATIONS OF THALASSAEMIA

• Enlargement of the upper jaw (chipmunk face)

• Migration and spacing of upper anterior teeth
• Increase in dental decay
• Delayed dental development
• Change in dental morphology
• Alveolar bone may have a ‘chickenwire-like’ radiological appearance
• Delayed pneumatisation of maxillary sinuses
• Painful swelling of parotids and xerostomia (due to iron deposits)
• Mucosal Pallor and dental discolouration
• Sore or burning tongue due to folate deficiency
• Oral ulceration (very rare)
• Necrotizing gingivostomatitis (very rare)
Profile view of a 13–year-old boy with thalassaemia major Cephalometric radiograph of a 15-year-old boy with
showing typical facial features of thalassemia major; thalassemia major disclosing prominent premaxilla,
characterized by frontal bossing, bulging cheekbone, saddle thickened frontal bone, thinned inferior border of the
nose, and protrusive premaxilla. mandible and partially obliterated maxillary sinus.

Thalassemia International Federation, 2014

Clinical Practice Recommendation
• Close dental and orthodontic monitoring is crucial
• Thalassemia patients should be evaluated by a dentist to determine
if bony changes requiring orthodontic treatments have developed.
• Splenectomy can complicate dental care due to increased risk of
infection. Prior to dental work, which is likely to cause bleeding of the
gums, splenectomized patients should receive dental prophylaxis.
Recommended treatment is 50 mg/kg of amoxicillin (to a maximum
dose of 2 g) one hour prior to dental work. If the patient is allergic to
penicillin, 20 mg/kg of clindamycin (to a maximum dose of 600 mg)
should be administered one hour prior to procedure
Clinical Practice Guidelines Northern California Thalassemia Comprehensive Center 2012
…………………Clinical Practice Recommendation

Bleeding due to
Scaling regular
liver dysfunction

Deficiency vit C “kawat gigi”:

(gingival swelling & Needs good regular
bleeding) transfusion (Hb >9)
Terima Kasih