Sferositosis Herediter: laporan kasus
Sari
Sferositosis herediter (SH) merupakan salah satu jenis anemia hemolitik yang disebabkan defek molekular
pada satu atau lebih protein sitoskleletal sel darah merah. Diagnosis SH sulit untuk ditegakkan karena
tidak ada tanda atau gejala yang patognomonik. Seorang bayi laki-laki, usia 5 bulan datang dirujuk seorang
dokter spesialis anak dengan dugaan talasemia dan riwayat batuk dan pilek, demam yang tidak terlalu tinggi,
kurang aktif, dan didapatkan kadar hemoglobin (Hb) 6,4 g/dL. Diagnosis sferositosis herediter ditegakkan
berdasarkan adanya riwayat kuning saat neonatus, anemia, splenomegali, ditemukannya sferosit yang banyak
pada pemeriksaan darah tepi, dan analisis protein membran eritrosit menunjukkan defisiensi spektrin alfa.
Pasien diberi asam folat dan transfusi darah. Splenektomi belum terindikasi karena anemia masih dapat
dikompensasi oleh sumsum tulang.
Kata Kunci
Teks Lengkap:
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DOI: http://dx.doi.org/10.14238/sp11.4.2009.298-304
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