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

BACKGROUND: The frequency of the beta-thalassemia (β-thalassemia) gene in Indonesia ranges from 3 to 10%. However, in the East Java province, there is still limited information on the prevalence of β-thalassemia mutations in clinically diagnosed beta-thalassemia patients of East Java. Therefore, thi...

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Autores principales: Hernaningsih, Yetti, Syafitri, Yuli, Indrasari, Yulia Nadar, Rahmawan, Prafa Alif, Andarsini, Mia Ratwita, Lesmana, Indra, Moses, Emmanuel Jairaj, Abdul Rahim, Nur Arzuar, Yusoff, Narazah Mohd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9335155/
https://www.ncbi.nlm.nih.gov/pubmed/35911837
http://dx.doi.org/10.3389/fped.2022.925599
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author Hernaningsih, Yetti
Syafitri, Yuli
Indrasari, Yulia Nadar
Rahmawan, Prafa Alif
Andarsini, Mia Ratwita
Lesmana, Indra
Moses, Emmanuel Jairaj
Abdul Rahim, Nur Arzuar
Yusoff, Narazah Mohd
author_facet Hernaningsih, Yetti
Syafitri, Yuli
Indrasari, Yulia Nadar
Rahmawan, Prafa Alif
Andarsini, Mia Ratwita
Lesmana, Indra
Moses, Emmanuel Jairaj
Abdul Rahim, Nur Arzuar
Yusoff, Narazah Mohd
author_sort Hernaningsih, Yetti
collection PubMed
description BACKGROUND: The frequency of the beta-thalassemia (β-thalassemia) gene in Indonesia ranges from 3 to 10%. However, in the East Java province, there is still limited information on the prevalence of β-thalassemia mutations in clinically diagnosed beta-thalassemia patients of East Java. Therefore, this study aimed to characterize β-thalassemia mutations in selected patients in the East Java province of Indonesia. METHODS: This is an analytical observational study. Diagnosis of β-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 β-thalassemia gene as the common mutation in Indonesia was done using PCR followed by Sanger sequencing. RESULTS: In total, 33 (n = 33) participants were involved in this study with ages ranging from 5 to 17 years comprising 19 women and 14 men. Their ethnic origins were Javanese (n = 30) and Chinese (n = 3). CBC results showed that mean ± standard deviation (SD) for Hb, red blood cell (RBC), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), and red cell distribution width (RDW)-CV were 81.2 ± 7.0 g/L; 3.40 ± 0.39 × 10(9)/L; 71.05 ± 5.72 fL; 24.12 ± 2.45 pg; 33.91 ± 1.47 g/dl; 24.38 ± 6.02%, respectively. Hb electrophoresis revealed that 5 out of 33 participants had beta-thalassemia and 28 out of 33 participants had hemoglobinopathy (Hb) E/beta-thalassemia. Results of Sanger sequencing showed the following genotype variations in the samples: 12 (36.4%) with β(CD26)/β(IVS−I−5); 6 (18.2%) with β(CD26)/β(CD35); 3 (9.1%) with β(CD26)/β(IVS−I−2); 2 (6.1%) with β(CD27/28)/β(CD40); 2 (6.1%) with β(IVS−I−1)/β(CAP+1); and β(CD26)/β(IVS−I−1); β(IVS−I−5)/β(CAP+1); β(IVS−I−5)/β(CD35); β(CD26)/β(CD37); β(CD26)/β(CD15); β(CD26)/β(CD40); and β(IVS−I−5)/β(CD19) in 1 (3%) sample, respectively, and 1 (3%) had no abnormality detected in sequencing even though electrophoresis showed abnormality in the migration pattern. The β(CD26)/β(IVS−I−5) mutation was found in samples that were noted to have Hb E/beta-thalassemia on Hb electrophoresis. CONCLUSION: The underlying genetic variations are heterogeneous in thalassemia patients in East Java, where 12 variants were found. The most common variant was β(CD26)/β(IVS−I−5), which all accounted for Hb E/beta-thalassemia on Hb electrophoresis. Furthermore, 28 out of 33 participants had hemoglobinopathy (Hb) E/beta-thalassemia.
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spelling pubmed-93351552022-07-30 Analysis of Common Beta-Thalassemia (β-Thalassemia) Mutations in East Java, Indonesia Hernaningsih, Yetti Syafitri, Yuli Indrasari, Yulia Nadar Rahmawan, Prafa Alif Andarsini, Mia Ratwita Lesmana, Indra Moses, Emmanuel Jairaj Abdul Rahim, Nur Arzuar Yusoff, Narazah Mohd Front Pediatr Pediatrics BACKGROUND: The frequency of the beta-thalassemia (β-thalassemia) gene in Indonesia ranges from 3 to 10%. However, in the East Java province, there is still limited information on the prevalence of β-thalassemia mutations in clinically diagnosed beta-thalassemia patients of East Java. Therefore, this study aimed to characterize β-thalassemia mutations in selected patients in the East Java province of Indonesia. METHODS: This is an analytical observational study. Diagnosis of β-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 β-thalassemia gene as the common mutation in Indonesia was done using PCR followed by Sanger sequencing. RESULTS: In total, 33 (n = 33) participants were involved in this study with ages ranging from 5 to 17 years comprising 19 women and 14 men. Their ethnic origins were Javanese (n = 30) and Chinese (n = 3). CBC results showed that mean ± standard deviation (SD) for Hb, red blood cell (RBC), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), and red cell distribution width (RDW)-CV were 81.2 ± 7.0 g/L; 3.40 ± 0.39 × 10(9)/L; 71.05 ± 5.72 fL; 24.12 ± 2.45 pg; 33.91 ± 1.47 g/dl; 24.38 ± 6.02%, respectively. Hb electrophoresis revealed that 5 out of 33 participants had beta-thalassemia and 28 out of 33 participants had hemoglobinopathy (Hb) E/beta-thalassemia. Results of Sanger sequencing showed the following genotype variations in the samples: 12 (36.4%) with β(CD26)/β(IVS−I−5); 6 (18.2%) with β(CD26)/β(CD35); 3 (9.1%) with β(CD26)/β(IVS−I−2); 2 (6.1%) with β(CD27/28)/β(CD40); 2 (6.1%) with β(IVS−I−1)/β(CAP+1); and β(CD26)/β(IVS−I−1); β(IVS−I−5)/β(CAP+1); β(IVS−I−5)/β(CD35); β(CD26)/β(CD37); β(CD26)/β(CD15); β(CD26)/β(CD40); and β(IVS−I−5)/β(CD19) in 1 (3%) sample, respectively, and 1 (3%) had no abnormality detected in sequencing even though electrophoresis showed abnormality in the migration pattern. The β(CD26)/β(IVS−I−5) mutation was found in samples that were noted to have Hb E/beta-thalassemia on Hb electrophoresis. CONCLUSION: The underlying genetic variations are heterogeneous in thalassemia patients in East Java, where 12 variants were found. The most common variant was β(CD26)/β(IVS−I−5), which all accounted for Hb E/beta-thalassemia on Hb electrophoresis. Furthermore, 28 out of 33 participants had hemoglobinopathy (Hb) E/beta-thalassemia. Frontiers Media S.A. 2022-07-15 /pmc/articles/PMC9335155/ /pubmed/35911837 http://dx.doi.org/10.3389/fped.2022.925599 Text en Copyright © 2022 Hernaningsih, Syafitri, Indrasari, Rahmawan, Andarsini, Lesmana, Moses, Abdul Rahim and Yusoff. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Hernaningsih, Yetti
Syafitri, Yuli
Indrasari, Yulia Nadar
Rahmawan, Prafa Alif
Andarsini, Mia Ratwita
Lesmana, Indra
Moses, Emmanuel Jairaj
Abdul Rahim, Nur Arzuar
Yusoff, Narazah Mohd
Analysis of Common Beta-Thalassemia (β-Thalassemia) Mutations in East Java, Indonesia
title Analysis of Common Beta-Thalassemia (β-Thalassemia) Mutations in East Java, Indonesia
title_full Analysis of Common Beta-Thalassemia (β-Thalassemia) Mutations in East Java, Indonesia
title_fullStr Analysis of Common Beta-Thalassemia (β-Thalassemia) Mutations in East Java, Indonesia
title_full_unstemmed Analysis of Common Beta-Thalassemia (β-Thalassemia) Mutations in East Java, Indonesia
title_short Analysis of Common Beta-Thalassemia (β-Thalassemia) Mutations in East Java, Indonesia
title_sort analysis of common beta-thalassemia (β-thalassemia) mutations in east java, indonesia
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9335155/
https://www.ncbi.nlm.nih.gov/pubmed/35911837
http://dx.doi.org/10.3389/fped.2022.925599
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