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Savita Handayani
Internal Medicine Department
Hematology Oncology Division
Haji Adam Malik Hospital/Universitas Sumatera Utara Hospital
Faculty of Medicine Universitas Sumatera Utara
Thalassemia Red blood cell abnormalities result in
reduction or absence globin chain
formation -> heredity based on
Mendel's Law
Hukum
THALASSEMIA
• “abnorma hemoglobin”
Hemoglobinophaty • Different structure and characteristic
• HbS, HbC, HbE, HbD, Hb Lepore
Type of Hemoglobin
Brancaleoni V, et al. Int. Jnl. Lab. Hem. 2016, 38 (Suppl. 1), 32-40
Primary hematological test
Brancaleoni V, et al. Int. Jnl. Lab. Hem. 2016, 38 (Suppl. 1), 32-40
Apus darah
Screening Hb ↓ CBC: tepi
Indeks reti-
MCV- MCH kulosit
___________________________________________________________
Laboratory testing Iron deficiency Thalassemia Minor Chronic disease
___________________________________________________________
MCV ↓ ↓ N/↓
Serum Iron ↓ N ↓
TIBC ↑ N ↓
Transferin Saturation ↓ N N/↓
Feritin ↓ N ↑
___________________________________________________________
Electrophoresis Hb in Normal
People
Elektrophoresis in Beta Thalassemia trait
Electrophoresis Hb in Beta thalassemia major
Electrophoresis Hb in Hb E trait
Electrophoresis Hb inHb E
Molecular Analysis
• Genotype test = DNA test
• Examine the DNA sequences that encode globin
chains or the loss of genes
• To ensure patients suspected of thalassemia
clinically and in prenatal and neonatal screening
tests
Viprakasit V,et al. Guidelines for the management of transfusion dependent thalassemia (TDT). 3rd edition.
Thalassaemia International Federation. 2014: 14-25
Until now, thalassemia can
Major Treatment not be cured
Hb ≥ 7 g/dL
Hb ≤ 9-10 g/dL Blood transfusion*
with: Blood
Especially (target Hb 11-12
•Facies Cooley transfu
• Bone fracture children g/dL)
sion*
•Suspect extramedular
hematopoesis mass ,
a.l: mediastinum * When available, blood is given in the form of low leukocyte (Leucodepleted) P
screening
Specific condition:
Hb ≥ 7 g/dL
With infection, but WITHOUT: Blood transfusion *
Hb < 7
Face changes g/dL
Bone fracture Treat the
infection Postpone
Extra medular hematopoesis Hb ≥ 7
(max 2 transfusion
g/dL
weeks) observed
Pituitary
gland • Iron overload results in nontransferrin-
bound iron in the plasma
Heart • Increased iron uptake into selective organs
• Generation of free hydroxyl radicals
Liver
Pancreas
Gonadal
Tissue damage
Haematologica. 2013;
98(6)
Test
• Blood glucose
• Calcium, phosphate
• Cholesterol, HDL, LDL, trigylceride
• Echocardiography (FS, FE, La/Ao ratio, end
diastolic diameter)
• MRI T2* heart & liver (if possible)
• Spirometry
• Bone age
• Puberty
• FSH, LH, testosteron and/orestradiol
• FT4, TSH
• Radiology (vertebra, femur, humerus, hip)#
• US abdominal#
• CT scan #
# If possible
Survival of Thalassemia
100
1.00
0.75
75
Survival probability
Birth cohort
Survival (%)
1985–97
1980–84
0.50 1975–79 50
1970–74
1965–69 Well-chelated patients
1960–64
0.25 Poorly chelated patients
(P<0.00005) 25
0
0 5 10 15 20 25 30
0
Age (years) 10 15 20 25
Age (years)
Pasien
Dewasa Jan - Jul
2018
2017
Total
kunjung 2016
an
Total
Pasien
Total Pasien
Pasien
Dewasa Jan - Jul 2018
2017
2016
Total
kunjung
an
Total Total Pasien
Pasien