10-Jun-21

A NEW CONCEPT IN
THALASSEMIA SCREENING
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Tri Ratnaningsih

Materi
Patogenesis dan Klasifikasi

Alur diagnosis

Pemeriksaan laboratorium

Parameter baru

Algoritma skrining talasemia

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Pembentukan Globin

Pembentukan Globin

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Patogenesis dan Klasifikasi Talasemia Alfa

Patogenesis dan Klasifikasi Talasemia Beta

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Spektrum klinis talasemia

Alur Diagnosis

Riwayat
Elektroforesis
Hemoglobino
Ras/etnis
pati dengan
ANALISIS
HPLCGLOBIN probabilitas
Manifestasi
terbesar
klinis
Elektroforesis
kapiler
Hematologi

Analisis Gen

Mendukung kecurigaan jenis Analisis Globin

varian yang umum

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Pemeriksaan Laboratorium
Standard laboratory investigations Supplementary Methods
1. Haematology 1. Red Blood Cell Morphology
▪ Red blood cell count or complete blood count 2. Reticulocyte and Hbh Inclusion Body
▪ Reticulocyte count Detection
2. Hb quantification 3. Heinz Inclusion Bodies
▪ Hb A2 & F: HPLC, capillary electrophoresis 4. Osmotic Fragility Test
▪ Hb F: Alkali denaturation 5. Hb Stability Test: Isopropanol Test
▪ Hb F-cells: Kleihauer test dan Heat Test
3. Hb pattern analysis 6. Sickling Test
▪ Electrophoretic methods: agarose gel, cellulose acetate 7. Hb E Detection By DCIP Test
▪ Isoelectric focussing 8. Oxygen Dissociation Curve
▪ HPLC, capillary electrophoresis (CE)
4. Molecular analysis
▪ DNA analysis
▪ Protein analysis - mass spectrometry
5. Biochemical indices Iron status Thalassemia International Federation (2016)

Pemeriksaan Laboratorium
Standard laboratory investigations Supplementary Methods
1. Haematology 1. Red Blood Cell Morphology
▪ Red blood cell count or complete blood count 2. Reticulocyte and HbH Inclusion Body
▪ Reticulocyte count Detection
2. Hb quantification 3. Heinz Inclusion Bodies
▪ Hb A2 & F: HPLC, capillary electrophoresis 4. Osmotic Fragility Test
▪ Hb F: Alkali denaturation 5. Hb Stability Test: Isopropanol Test
▪ Hb F-cells: Kleihauer test dan Heat Test
3. Hb pattern analysis 6. Sickling Test
▪ Electrophoretic methods: agarose gel, cellulose acetate 7. Hb E Detection By DCIP Test
▪ Isoelectric focussing 8. Oxygen Dissociation Curve
▪ HPLC, capillary electrophoresis (CE)
4. Molecular analysis
▪ DNA analysis
▪ Protein analysis - mass spectrometry
5. Biochemical indices Iron status Thalassemia International Federation (2016)

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Pemeriksaan Laboratorium
• pemeriksaan darah lengkap
Tingkat RS
• osmotic fragility test, dan
Komunitas
• dichlorophenol indophenols (DCIP) precipitation test
• pemeriksaan darah lengkap
• osmotic fragility test
Tingkat RS Propinsi
• DCIP precipitation test, dan
• Hb typing dengan elektroforesis
• pemeriksaan darah lengkap
• osmotic fragility test
Tingkat RS Regional
• DCIP precipitation test, dan
• Hb typing dengan elektroforesis otomatis atau HPLC.

Kementrian Kesehatan RI (2018)

Pemeriksaan Laboratorium
• pemeriksaan darah lengkap
Tingkat RS
• osmotic fragility test, dan
Komunitas
• dichlorophenol indophenols (DCIP) precipitation test
• pemeriksaan darah lengkap
• osmotic fragility test
Tingkat RS Propinsi
• DCIP precipitation test, dan
• Hb typing dengan elektroforesis
• pemeriksaan darah lengkap
• osmotic fragility test
Tingkat RS Regional
• DCIP precipitation test, dan
• Hb typing dengan elektroforesis otomatis atau HPLC

Kementrian Kesehatan RI (2018)

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Algoritma skrining talasemia

Thalassemia International Federation (2016)

Parameter baru
• Mendeteksi Hb Barts (γ4)
• Metode ICT
• Praktis

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Perbandingan ICT dengan HbH

Nelson AC, Motum PI, Emeto TI. Evaluation of an immunochromatographic test for alpha thalassaemia
screening in a multi‐ethnic population. Int J Lab Hematol. 2019;41:397–403.

Algoritma Skrining Pemeriksaan Hematologi

MCV <80 fl dan MCH <27 pg MCV >80 fl dan atau MCH >27 pg SELESAI

Analisis Hemoglobin

HbA2 > 3,5 HbA2 < 3,5% HbA2 < 3,5% Hb Varian
Hb F 0,1-7 % Hb F < 1% Hb F < 5-30%

Pemeriksaan status
Beta Thal trait besi Delta Beta Thal Hb C, Hb E, Hb D, Hb
atau HPFH O-Arab, Hb lepore

Defisiensi Besi Normal

ICT Hb Barts
Koreksi besi dan Analisis Gen Alfa
tes ulang
Positif Negatif
Alfa Thal Trait Genotipe Normal
α0-thal trait, excludes
Analisis Gen Beta homo α+ -thal, a0-thal carrier,
α+ -thal-CS hetero α+ -thal

PCR untuk deteksi

α0-thal

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BOTH PARENTS ARE CARRIERS OF αο-THALASSAEMIA

THALASSAEMIA GENES ON SAME CHROMOSOMES (cis)

ONE PARENT CARRIER OF αο-THALASSAEMIA AND THE

OTHER A SILENT CARRIER OF α-THALASSAEMIA (α+ THAL)
THALASSAEMIA GENES ON SAME CHROMOSOMES (cis)

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Kesimpulan
1. Patogenesis dan Klasifikasi talasemia sangat kompleks dengan
Alur diagnosis cukup panjang

2. Pemeriksaan laboratorium disesuaikan dengan kemampuan

fasilitas pelayanan kesehatan

3. Parameter baru ICT untuk mendeteksi Hb Barts mengefisienkan

pelacakan thalassemia alfa

Yogyakarta, 10 Juni 2021

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Terima kasih

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