PMID- 35911837 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20220802 IS - 2296-2360 (Print) IS - 2296-2360 (Electronic) IS - 2296-2360 (Linking) VI - 10 DP - 2022 TI - Analysis of Common Beta-Thalassemia (beta-Thalassemia) Mutations in East Java, Indonesia. PG - 925599 LID - 10.3389/fped.2022.925599 [doi] LID - 925599 AB - BACKGROUND: The frequency of the beta-thalassemia (beta-thalassemia) gene in Indonesia ranges from 3 to 10%. However, in the East Java province, there is still limited information on the prevalence of beta-thalassemia mutations in clinically diagnosed beta-thalassemia patients of East Java. Therefore, this study aimed to characterize beta-thalassemia mutations in selected patients in the East Java province of Indonesia. METHODS: This is an analytical observational study. Diagnosis of beta-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 beta-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 x 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 beta (CD26) /beta (IVS-I-5); 6 (18.2%) with beta (CD26) /beta (CD35); 3 (9.1%) with beta (CD26) /beta (IVS-I-2); 2 (6.1%) with beta (CD27/28) /beta (CD40); 2 (6.1%) with beta (IVS-I-1) /beta (CAP+1); and beta (CD26) /beta (IVS-I-1); beta (IVS-I-5) /beta (CAP+1); beta (IVS-I-5) /beta (CD35); beta (CD26) /beta (CD37); beta (CD26) /beta (CD15); beta (CD26) /beta (CD40); and beta (IVS-I-5) /beta (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 beta (CD26) /beta (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 beta (CD26) /beta (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. CI - Copyright (c) 2022 Hernaningsih, Syafitri, Indrasari, Rahmawan, Andarsini, Lesmana, Moses, Abdul Rahim and Yusoff. FAU - Hernaningsih, Yetti AU - Hernaningsih Y AD - Department of Clinical Pathology, Faculty of Medicine Universitas Airlangga, Dr. Soetomo Academic General Hospital, Surabaya, Indonesia. FAU - Syafitri, Yuli AU - Syafitri Y AD - Study Program of Clinical Pathology, Faculty of Medicine Universitas Airlangga, Surabaya, Indonesia. FAU - Indrasari, Yulia Nadar AU - Indrasari YN AD - Department of Clinical Pathology, Faculty of Medicine Universitas Airlangga, Dr. Soetomo Academic General Hospital, Surabaya, Indonesia. FAU - Rahmawan, Prafa Alif AU - Rahmawan PA AD - Study Program of Clinical Pathology, Faculty of Medicine Universitas Airlangga, Surabaya, Indonesia. FAU - Andarsini, Mia Ratwita AU - Andarsini MR AD - Department of Pediatrics, Faculty of Medicine Universitas Airlangga, Dr. Soetomo Academic General Hospital, Surabaya, Indonesia. FAU - Lesmana, Indra AU - Lesmana I AD - Laboratory of Genetics and Breeding, Faculty of Biology, Universitas Gadjah Mada, Yogyakarta, Indonesia. FAU - Moses, Emmanuel Jairaj AU - Moses EJ AD - Advanced Medical and Dental Institute, Universiti Sains Malaysia (USM), Penang, Malaysia. FAU - Abdul Rahim, Nur Arzuar AU - Abdul Rahim NA AD - Advanced Medical and Dental Institute, Universiti Sains Malaysia (USM), Penang, Malaysia. FAU - Yusoff, Narazah Mohd AU - Yusoff NM AD - Department of Clinical Pathology, Faculty of Medicine Universitas Airlangga, Dr. Soetomo Academic General Hospital, Surabaya, Indonesia. AD - Advanced Medical and Dental Institute, Universiti Sains Malaysia (USM), Penang, Malaysia. LA - eng PT - Journal Article DEP - 20220715 PL - Switzerland TA - Front Pediatr JT - Frontiers in pediatrics JID - 101615492 PMC - PMC9335155 OTO - NOTNLM OT - East Java OT - Indonesia OT - anemia OT - beta-thalassemia OT - beta-thalassemia mutations COIS- The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The handling editor ZAL declared a past co-authorship with the author NY. EDAT- 2022/08/02 06:00 MHDA- 2022/08/02 06:01 PMCR- 2022/07/15 CRDT- 2022/08/01 03:52 PHST- 2022/04/21 00:00 [received] PHST- 2022/06/20 00:00 [accepted] PHST- 2022/08/01 03:52 [entrez] PHST- 2022/08/02 06:00 [pubmed] PHST- 2022/08/02 06:01 [medline] PHST- 2022/07/15 00:00 [pmc-release] AID - 10.3389/fped.2022.925599 [doi] PST - epublish SO - Front Pediatr. 2022 Jul 15;10:925599. doi: 10.3389/fped.2022.925599. eCollection 2022.