Beta Thalassemia and Metabolomics: Traditional Review Beta Talasemi ve Metabolomik: Geleneksel Derleme
Turkiye Klinikleri Journal of Medical Sciences, vol.46, no.3, pp.307-316, 2026 (Scopus, TRDizin)
- Publication Type: Article / Review
- Volume: 46 Issue: 3
- Publication Date: 2026
- Doi Number: 10.5336/medsci.2026-118419
- Journal Name: Turkiye Klinikleri Journal of Medical Sciences
- Journal Indexes: Scopus, Central & Eastern European Academic Source (CEEAS), CINAHL, EMBASE, TR DİZİN (ULAKBİM), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest)
- Page Numbers: pp.307-316
- Keywords: beta thalassemia, metabolomics, Thalassemia
- Hacettepe University Affiliated: Yes
Abstract
Thalassemias represent a major cause of hypochromic mi-crocytic anemia worldwide and arise from impaired or absent synthesis of globin chains. Among these disorders, β-thalassemia is a severe hereditary hemoglobinopathy resulting from mutations in the β-globin gene that lead to reduced or absent β-globin chain synthesis. The consequent imbalance between α-and β-globin chains triggers ineffective erythropoiesis, chronic hemolysis, and progressive iron overload. These pathophysiological mech-anisms promote oxidative stress, chronic inflammation, and widespread metabolic dysregulation, ultimately contributing to multi-organ complica-tions, including cardiac, hepatic, and endocrine dysfunction. Despite sub-stantial improvements in conventional management strategies, such as regular transfusion regimens, iron chelation therapy, and hematopoietic stem cell transplantation, disease-related morbidity remains significant. Advances in technology and a deeper understanding of the pathological and physio-logical effects of β-thalassemia have driven the development of new thera-pies, significantly enhancing patients’ quality of life and life expectancy. Metabolomics, defined as the comprehensive analysis of small-molecule metabolites in biological systems, has emerged as a powerful tool for elu-cidating disease-associated metabolic alterations. By employing high-throughput platforms such as nuclear magnetic resonance spectroscopy and mass spectrometry-based techniques (liquid chromatography-mass spec-trometry and gas chromatography-mass spectrometry), metabolomics studies have identified significant disruptions in energy metabolism, amino acid turnover, lipid profiles, and oxidative stress pathways in β-thalassemia pa-tients. This review highlights recent advances in metabolomic research related to β-thalassemia, paving the way for further studies to elucidate the pathophysiological and diagnostic aspects of the disease.