Mutation Spectrum of beta-Globin Gene in Patients with beta-Thalassemia at Tidar Hospital, Magelang, Central Java, Indonesia

beta-Thalassemia is genetic disorder characterized by beta-globin chain deficiency resulting from mutations in the beta-globin coding gene. Both the quantity and quality of blood produced will be impacted by this condition. The distribution of mutation causing thalassemia is vary across ethnic and different regions in Indonesia. This study aims to identify the variant mutation in patients with beta-thalassemia at Tidar Hospital as representative samples of Javanese population, the largest ethnicity in Indonesia. Sixty-one blood samples were obtained from blood transfusion-dependent patients with beta-thalassemia. Mutation was identified using ARMS and RFLP PCR-based methods, and inconclusive samples were subjected to DNA sequencing. Results showed that the mutation variants were Cd 26/IVSI-5 (G>C) 47.54%, Cd 26/Cd 35 16.30%, Cd 26/IVSI-1 (G>T) 11.47%, Cd 26/IVSI-2 4.91%, IVSI-5 (G>C)/Cd 40 3.27%; 1.63%; IVSI-5 (G>C)/IVSI-1 (G>A) 1.63%; IVSI-5 (G>C)/Cap + 1 1.63%; Cd 26/Cd 15 1.63%; Cd 26/Cd 30 1.63%. We also found three homozygous of IVSI-1 (G>T), IVSI-5 (G>C) 6.55%, and Cd 35 1.63%. The most prevalent alleles would be recommended to be used as part of screening for beta-thalassemia in the Javanese ethnicity in Central Java, especially for families affected by thalassemia.

Automated summary

This study aims to identify gene mutations in patients with beta-thalassemia, with Javanese population as representative samples. Results showed that Cd 26/IVSI-5 (G>C) was the most common mutation type.