PEMERIKSAAN LABORATORIUM PADA THALASEMIA

Tinjauan Pustaka
Divisi Hematologi

Shofia Widya Murti

Delita Prihatni

23 Juni 2022

PROGRAM STUDI PENDIDIKAN DOKTER SPESIALIS-1

PATOLOGI KLINIK
FAKULTAS KEDOKTERAN UNIVERSITAS PADJADJARAN
RUMAH SAKIT UMUM PUSAT DR. HASAN SADIKIN
BANDUNG
2022

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DAFTAR ISI

DAFTAR ISI..................................................................................................................
DAFTAR GAMBAR....................................................................................................
DAFTAR TABEL........................................................................................................
BAB I - PENDAHULUAN...........................................................................................
BAB II – TINJAUAN PUSTAKA................................................................................
2.1 Definisi Thalasemia..................................................................................................4
2.2 Epidemiologi Thalasemia.........................................................................................5
2.3 Klasifikasi Thalasemia.............................................................................................7
2.3.1 Thalasemia Mayor.................................................................................................7
2.3.2 Thalasemia Intermedia..........................................................................................8
2.3.3 Thalasemia Minor..................................................................................................8
2.4 Genotip dan Fenotip Thalasemia.............................................................................9
2.5 Patofisiologi Thalasemia........................................................................................18
2.6 Diagnosis dan Skrining Thalasemia......................................................................23
2.6.1 Anamnesis.....................................................................................................24
2.6.2 Pemeriksaan Fisik.........................................................................................24
2.6.3 Pemeriksaan Laboratorium...........................................................................25
2.6.3.1 Pemeriksaan Hematologi...........................................................................25
2.6.3.2 Pemeriksaan Elektroforesis Hb..................................................................29
2.6.3.2.1 Pemeriksaan Isoelectric focusing (IEF)..................................................30
2.6.3.2.2 Elektroforesis Selulosa Asetat (Alkali)...................................................32
2.6.3.2.3 Elektroforesis Agar Sitrat (Asam)...........................................................33
2.6.3.2.4 Elektroforesis Zona Kapiler....................................................................34
2.6.3.2.6 Pemeriksaan High performance liquid chromatography (HPLC)..........37
2.6.3.3 Pemeriksaan Analisis DNA.......................................................................39
2.6.3.3.1 Restriction Fragment Length Polymorphism (RFLP)...............................40
2.6.3.3.2 Allelic Discrimination menggunakan Real Time PCR..............................42
2.6.3.3.3 DNA Sequencing...........................................................................................44
2.6.3.3.4 Next Generation Sequencing (NGS)...........................................................45
BAB III - RINGKASAN.............................................................................................
SUMMARY...................................................................................................................
DAFTAR PUSTAKA..................................................................................................
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DAFTAR GAMBAR

Gambar 2.1 Struktur Molekul Hemoglobin...................................................................

Gambar 2.2 Struktur klaster gen  pada kromosom16................................................
Gambar 2.3 Mutasi Thalasemia α dan lokus-lokus yang sering terjadi delesi............
Gambar 2.4 Struktur klaster gen  pada kromosom 11...............................................
Gambar 2.5 Sintesis rantai globin................................................................................
Gambar 2.6 Patofisiologi Thalasemia-β......................................................................
Gambar 2.7 Alur diagnosis Thalasemia......................................................................
Gambar 2.8 Gambaran darah tepi pada Thalasemia β Mayor.....................................
Gambar 2.9 Prinsip pemeriksaan Isoelectric focusing (IEF).......................................
Gambar 2.11 Hasil pemeriksaan Elektroforesis Selulosa Asetat (Alkali)...................
Gambar 2.12 Elektroforesis Agar Sitrat (Asam).........................................................
Gambar 2.13 Prinsip elektroforesis zona kapiler.........................................................
Gambar 2.14 Pola elektroforegram normal pada neonatus.........................................
Gambar 2.15 Prinsip pemeriksaan HPLC....................................................................
Gambar 2.16 Prosedur dan hasil metode RFLP..........................................................
Gambar 2.17 Prosedur Allelic Discrimination menggunakan Real Time PCR..........
Gambar 2.18 Prosedur DNA Sequencing....................................................................
Gambar 2.19 Perbandingan Sanger sequencing dengan NGS.....................................
Gambar 2.20 Algoritma Pemeriksaan Biomolekuler pada Thalasemia......................