Thalassemia Alfa Mayor dengan Mutasi Non-Delesi Heterozigot Ganda

Dina Muktiarti, Pustika Amalia Wahidiyat, Ita M. Nainggolan, Iswari Setianingsih

Sari


Seorang anak perempuan berusia 3 tahun dengan gejala klinis anemia berat,
hepatosplenomegali, dan memerlukan tranfusi darah teratur. Gejala klinis telah timbul
saat pasien berusia 3 bulan. Hapusan darah tepi menunjukkan gambaran hipokrom,
mikrositosis, dan anisopoikilositosis. Kadar HbA2 normal, HbF sedikit meningkat, dan
terdapat HbBart’s. Ayah dan ibu memiliki gambaran hematologis yang mendekati normal.
Analisis DNA menunjukkan dua mutasi non-delesi (mutasi titik) pada gen globin a2
yaitu pada kodon 59 (GGCglisin→GACaspartat) dan IVS2-nt142 (AG→AA). Kasus ini adalah
kasus pertama yang ditemukan di Departemen Ilmu Kesehatan Anak RS. Dr. Cipto
Mangunkusumo Jakarta yang mempunyai mutasi heterozigot ganda pada kodon 59 dan
IVS2-nt142. Gejala klinis thalassemia mayor diakibatkan adanya mutasi kodon 59 yang
menghasilkan varian hemoglobin yang tidak stabil (HbAdana) disertai adanya mutasi
non-delesi pada IVS2-nt142 yang menyebabkan proses mRNA yang tidak normal.


Kata Kunci


thalassemia alfa; mutasi non-delesi; kodon 59; IVS2-nt142

Teks Lengkap:

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Referensi


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DOI: http://dx.doi.org/10.14238/sp8.3.2006.244-50

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