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Erythrocyte Indices for Beta-thalassemia Trait (BTT) Screening in Indonesia: A Scoping Review Mutmainah, Iffa; Kemuning, Asri Ragil; Nugraha, Widya Eka; Hanif, Aisyah Amanda; Mauludyani, Anna Vipta Resti
Diponegoro International Medical Journal Vol 6, No 1 (2025): July 2025
Publisher : Faculty of Medicine, Diponegoro University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/dimj.v6i1.27771

Abstract

Background: Thalassemia is a monogenic disorder that ranks fifth among the catastrophic diseases in Indonesia. Thalassemia screening plays an important role in preventing the birth of individuals with thalassemia major. Numerous erythrocyte indices have been used as first-line screening methods for beta-thalassemia trait, preceding definitive analysis using hemoglobin electrophoresis.Objective: This study aimed to conduct a literature review comparing the most frequently used erythrocyte indices in Indonesia with hemoglobin electrophoresis.Methods: A systematic search was conducted using PubMed, Scopus, EBSCO, and Google Scholar databases in July 2024. This study included full-text articles in Indonesian or English that compared erythrocyte indices and hemoglobin electrophoresis for thalassemia screening.Results: Six articles were included in this review. Two of the six articles analyzed the compatibility of erythrocyte indices and hemoglobin electrophoresis using kappa statistics. The remaining articles calculated the diagnostic values.  Among the ten erythrocyte indices, the Mentzer index was the most frequently assessed, appearing in six studies, followed by the indices of Shine & Lal and Sirdah, each evaluated in three studies. The Green-King, England & Fraser, and Srivastava indices were each examined in two studies. Additionally, Ehsani, Matos and Carvalho, RDW, and MCV and/or MCH indices were each assessed in one study.Conclusion: The compatibility between erythrocyte indices and hemoglobin electrophoresis, based on two studies, was fair indicating that hematological indices alone are insufficient for a definitive diagnosis. This finding aligns with the conclusions of four other studies, which also suggested that no single erythrocyte index is definitive. Among the indices, the Green-King Index demonstrated the highest reliability; however, further studies are needed to support this finding, while hemoglobin electrophoresis remains essential for an accurate diagnosis.
Genetic Variants Associated with Gefitinib Adverse Events in Non-Small Cell Lung Cancer: A Systematic Review Integrated with Protein-Protein Interaction Network and Structural Modelling Rangga Pradipa, Agya Marsaa; Al Ayyubi, Muhammad Shalahudin; Romadhona, Sabila; Sarkowi, Widya Khairunnisa; Nugraha, Widya Eka
JIMKI: Jurnal Ilmiah Mahasiswa Kedokteran Indonesia Vol 12 No 2 (2025): JIMKI: Jurnal Ilmiah Mahasiswa Kedokteran Indonesia Vol. 12.2 (2025)
Publisher : BAPIN-ISMKI (Badan Analisis Pengembangan Ilmiah Nasional - Ikatan Senat Mahasiswa Kedokteran Indonesia)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.53366/jimki.vi.v12i2.1049

Abstract

Introduction: Lung cancer remains the leading cause of cancer-related death worldwide, with non–small cell lung cancer (NSCLC) accounting for approximately 85% of cases. Gefitinib is a tyrosine kinase inhibitor frequently used in NSCLC with favorable outcome. However, many patients develop severe adverse effects which might be influenced by genetic variability. Therefore, we aim to systematically review the gene variants and its association with gefitinib-related adverse effects in NSCLC patients, as well as investigate the biological process involved. Methods: A systematic search was conducted according to PRISMA guidelines across PubMed, Scopus, and Cochrane. Studies investigating the association between genetic variations with gefitinib-related adverse effects in NSCLC were included. Risk of bias was assessed using the Cochrane RoB-E. Extracted data encompassed study and patient characteristics, adverse effects, and gene variations. Significant genes identified from included studies were analyzed through PPI network analysis, and the hub proteins found were visualized through Chimera. Results: Sixteen studies involving 1,176 patients were included, with Japanese populations being the most studied. Gene variants of CYP2D6, CYP3A4, ABCB1, ABCG2, EGFR, FOXO3, IKBKB, and AKT1 were found to be associated with adverse effects such as hepatotoxicity, skin rash, and diarrhea among NSCLC patients. Metabolism and inflammatory pathways might be involved in gefitinib-related adverse effects. Conclusion: Genetic variations in CYP2D6, CYP3A4, ABCB1, ABCG2, EGFR, FOXO3, IKBKB, and AKT1 may influence gefitinib-associated adverse effects, highlighting the need of pharmacogenomic testing to guide personalized treatment and improved patient safety. Keywords: Genetic Variants, Gefitinib, Non-Small Cell Lung Cancer, Adverse Effects, Protein-protein interaction