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

Abstract

β-Thalassemia is genetic disorder characterized by β-globin chain deficiency resulting from mutations in the β-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 β-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 β-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 β-thalassemia in the Javanese ethnicity in Central Java, especially for families affected by thalassemia.

Keywords:

• β-Thalassemia
• mutations
• ARMS
• RFLP

Acknowledgments

The authors would like to thank all the patients who participated in this study. We thank our colleagues, Dr. Tri Ratnaningsih, M. Kes, Sp.PK(K) and Dr. Nur Imma Fatimah Harahap, Ph.D. who provided insight, expertise, and discussion.

Ethical approval

This study was reviewed and approved by Ethics Committee of Faculty of Medicine, Public Health, and Nursing, UGM with Ref. No.: KE/FK/1289/EC/2021 and Ref. No.: KE/FK/1290/EC/2021. Written informed consent has been obtained from the patient(s) or patient’s legal guardian to participate the study.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Data availability statement

The datasets used in this study are available in online repositories. The following are the names of the repositories and accession numbers: https://www.ncbi.nlm.nih.gov/genbank/NG 059281.

Additional information

Funding

This research was thesis research of NMU and VNI and funded by Faculty of Biology, Universitas Gadjah Mada [grant number 1189/UN1/FBI.1/KSA/PT.01.03/2022 for NSNH].