Uji Diagnostik Indeks Darah dan Identifikasi Molekuler Karier Talasemia β pada Pendonor Darah di Banyumas
DOI:
https://doi.org/10.21776/ub.jkb.2015.028.03.13Abstract
Talasemia menempati kelainan genetik yang paling umum di seluruh dunia dengan prevalensi karier talasemia di Indonesia adalah sekitar 3-10%. Banyumas merupakan salah satu wilayah yang menyumbang angka prevalensi penderita talasemia yang cukup besar. Salah satu perangkat dalam program pencegahan terpadu adalah memastikan diagnosa molekuler pada tahap skrining sesuai dengan mutasi lokal. Tujuan dari penelitian adalah untuk mengetahui nilai uji diagnostik indeks darah dan karakterisitik mutasi talasemia β pada pendonor darah yang dicurigai karier talasemia. Subjek penelitian adalah 183 pendonor darah rutin pada PMI Banyumas. Skrining awal menggunakan indeks darah MCV, MCH, dan Hemoglobin elektroforesis. Karakteristik molekuler dilakukan dengan teknik PCR-RFLP dan teknik ARMS.  Hasil penelitian menunjukkan bahwa MCV memiliki nilai sensitivitas 81,3%, dan spesifisitas 95,8% sedangkan MCH menunjukkan sensitivitas sebesar 80% dengan spesifisitas 97,5%. Mutasi IVS-1 nt 5 (G>C) merupakan mutasi tersering disusul dengan HBE (codon 26) dan IVS1 nt 1(G>T).
Kata Kunci: Identifikasi molekuler, indeks darah, karier talasemia
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