SYSTEMATIC REVIEW: PEMODIFIKASI GENETIK β-THALASSEMIA

Mutia Syafira; Yunia  Sribudiani; Ani M Maskoen

doi:10.28932/jmh.v6i1.4788

Authors

Mutia Syafira Universitas Padjadjaran
Yunia Sribudiani Universitas Padjadjaran
Ani M Maskoen Universitas Padjadjaran

DOI:

https://doi.org/10.28932/jmh.v6i1.4788

Keywords:

beta thalassemia, KLF1, BCL11A, HBS1L-MYB, pemodifikasi genetik

Abstract

Thalassemia merupakan penyakit herediter yang diturunkan secara autosomal resesif. Thalassemia dibedakan berdasarkan variasi mutasi pada gen globin yaitu gen α-globin (HBA) pada α-Thalassemia dan β-globin (HBB) pada β-Thalassemia. Penelitian ini bertujuan untuk mengetahui potensi pemodifikasi genetik pada penderita β-Thalassemia. Data sistimatika review dengan pengumpulan jurnal terkait pada cangkupan kata kunci yang dikomplikasikan prinsip PRISMA. Beberapa hasil studi melaporkan polimorfisme dan atau mutasi pada gen KLF1, BCL11A dan region intergenik HBS1L-MYB sebagai pemodifikasi genetik pada β-Thalassemia, didapatkan sembilan jurnal yang masuk ke dalam kriteria inklusi. Berdasarkan hasil review yang dapat ditelaah bahwa pemodifikasi genetik pada kasus β-Thalassemia diketahui adanya mutasi atau polimorfisme pada gen-gen berikut KLF1, BCL11A, dan HBS1L-MYB cenderung meningkatkan produksi HbF dengan mengatur ekspresi γ-globin dan memperbaiki gejala klinis pasien β-Thalassemia. Simpulan dari kasus tersebut menjadikan peluang di kemudian hari untuk perawatan pasien yang dipersonalisasi disesuaikan dengan fenotipe yang meringankan gejala penderita β-Thalassemia.

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