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Penyakit Sel Sabit Pada Pasien Laki-Laki Berusia 27 Tahun Yang Sebelumnya Didiagnosis Sebagai Talasemia: Sebuah Laporan Kasus, Rahmat Cahyanur, Andree Kurniawan, Ratuafni Sharfina, Nadia Ayu Mulansari

Jurnal Penyakit Dalam Indonesia

Sickle cell disease (SCD) is a hemoglobinopathy inherited in an autosomal recessive pattern arising from a mutation causing substitution of valine for glutamic acid in the sixth amino acid of the β-globin chain. The clinical manifestation of SCD varies from acute pain, chronic anemia, to multi-organ infarct and failure. SCD is known to be rare in Indonesia. However, we recently encountered a SCD patient presenting with recurrent pain and hypesthesia since a year ago. The diagnosis of SCD in this patient was established based on the results of peripheral blood smear and hemoglobin electrophoresis. The patient had previously been diagnosed …