PEMERIKSAAN LABORATORIUM PADA THALASEMIA

Tinjauan Pustaka
Divisi Hematologi

Shofia Widya Murti

Delita Prihatni

24 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.......................................................................................6
2.3.1 Thalasemia Mayor...........................................................................................6
2.3.2 Thalasemia Intermedia....................................................................................7
2.3.3 Thalasemia Minor...........................................................................................8
2.4 Genotip dan Fenotip Thalasemia.......................................................................8
2.5 Patofisiologi Thalasemia..................................................................................17
2.6 Diagnosis dan Skrining Thalasemia.................................................................22
2.6.1 Anamnesis.....................................................................................................23
2.6.2 Pemeriksaan Fisik.........................................................................................24
2.6.3 Pemeriksaan Laboratorium...........................................................................24
2.6.3.1 Pemeriksaan Hematologi...........................................................................25
2.6.3.2 Pemeriksaan Elektroforesis Hb..................................................................31
2.6.3.2.1 Pemeriksaan Isoelectric focusing (IEF)..................................................31
2.6.3.2.2 Elektroforesis Selulosa Asetat (Alkali)...................................................33
2.6.3.2.3 Elektroforesis Agar Sitrat (Asam)...........................................................34
2.6.3.2.4 Elektroforesis Zona Kapiler....................................................................35
2.6.3.2.6 Pemeriksaan High performance liquid chromatography (HPLC)...........38
2.6.3.3 Pemeriksaan Analisis DNA.......................................................................40
2.6.3.3.1 Restriction Fragment Length Polymorphism (RFLP).............................41
2.6.3.3.2 Allelic Discrimination menggunakan Real Time PCR............................43
2.6.3.3.3 DNA Sequencing.....................................................................................45
2.6.3.3.4 Next Generation Sequencing (NGS).......................................................46
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. Metode Flowcytomery............................................................................
Gambar 2.9 Gambaran darah tepi pada Thalasemia β Mayor.....................................
Gambar 2.10 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......................