Version 1
: Received: 2 July 2024 / Approved: 2 July 2024 / Online: 2 July 2024 (09:52:51 CEST)
How to cite:
Gunay, A.; Levin, C.; Aytan, S.; Peretz, S.; Livshits, L.; Koren, A. Iron Metabolism in Thalassemia and Sickle Cell Anemia: The influence of Genetic Modifiers. Preprints2024, 2024070167. https://doi.org/10.20944/preprints202407.0167.v1
Gunay, A.; Levin, C.; Aytan, S.; Peretz, S.; Livshits, L.; Koren, A. Iron Metabolism in Thalassemia and Sickle Cell Anemia: The influence of Genetic Modifiers. Preprints 2024, 2024070167. https://doi.org/10.20944/preprints202407.0167.v1
Gunay, A.; Levin, C.; Aytan, S.; Peretz, S.; Livshits, L.; Koren, A. Iron Metabolism in Thalassemia and Sickle Cell Anemia: The influence of Genetic Modifiers. Preprints2024, 2024070167. https://doi.org/10.20944/preprints202407.0167.v1
APA Style
Gunay, A., Levin, C., Aytan, S., Peretz, S., Livshits, L., & Koren, A. (2024). Iron Metabolism in Thalassemia and Sickle Cell Anemia: The influence of Genetic Modifiers. Preprints. https://doi.org/10.20944/preprints202407.0167.v1
Chicago/Turabian Style
Gunay, A., Leonid Livshits and Ariel Koren. 2024 "Iron Metabolism in Thalassemia and Sickle Cell Anemia: The influence of Genetic Modifiers" Preprints. https://doi.org/10.20944/preprints202407.0167.v1
Abstract
Iron metabolism plays a crucial role in the management of hemoglobinopathies, particularly in conditions such as β-thalassemia and sickle cell anemia (SCA). This paper describes the mechanisms of iron overload in patients with transfusion-dependent thalassemia (TDT), non-transfusion-dependent thalassemia (NTDT), and SCA, highlighting the distinct paths leading to iron accumulation in each condition. The primary focus of this review article is on the role of genetic modifiers influencing iron metabolism and the variability in iron overload presentation among patients. Genetic mutations in genes such as HFE, HAMP, TFR2, SLC40A1, and others significantly impact iron regulation. These modifiers can exacerbate or ameliorate iron overload, and understanding these genetic factors is important for explaining the diverse disease severity and differences in the mechanism and clinical presentation of iron overload in these patients. The ongoing INHERENT study aims to further elucidate the influence of these genetic modifiers through a comprehensive genome-wide association study, potentially leading to novel therapeutic interventions for managing iron homeostasis in hemoglobinopathy patients.
Keywords
Iron; Iron metabolism; Iron overload; Thalassemia; Sickle Cell Anemia; Hepcidin; Hemojuvelin; erythroferrone; transferrin receptors; ferroportin.
Subject
Medicine and Pharmacology, Hematology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
