Analysis of Common Beta-Thalassemia (B-Thalassemia) Mutations in East Java, Indonesia

Description : The frequency of the beta-thalassemia (B-thalassemia) gene in Indonesiaranges from 3 to 10%. However, in the East Java province, there is still limited informationon the prevalence of B-thalassemia mutations in clinically diagnosed beta-thalassemia patients of East Java. Therefore, this study aimed to characterize B-thalassemiamutations in selected patients in the East Java province of Indonesia. This is an analytical observational study. Diagnosis of B-thalassemia was based on clinical presentation, complete blood count (CBC), and hemoglobin (Hb) electrophoresis. Blood specimens taken from each patient in three ethylenediaminetetraacetic acid (EDTA) tubes were analyzed for CBC and Hb electrophoresis and processed for DNA extraction and subsequent polymerase chain reaction (PCR). Detection of mutations in Hemoglobin Subunit Beta (HBB) gene exons 1–3 of the B-thalassemia gene as the common mutation in Indonesia was done using PCR followed by Sanger sequencing.