Review
Medicine, General & Internal
Antonis Kattamis, Janet L. Kwiatkowski, Yesim Aydinok
Summary: Thalassaemia is a genetic disorder that affects globin chain synthesis and has a worldwide distribution. The unbalanced production of globin chains leads to ineffective erythropoiesis, increased haemolysis, and disrupted iron homeostasis. The clinical phenotype varies from mild to severe, with treatment options including transfusion, iron chelation, allogeneic haematopoietic stem cell transplantation, and gene therapy.
Article
Hematology
John Chapin, Alan R. Cohen, Ellis J. Neufeld, Elliott Vichinsky, Patricia J. Giardina, Jeanne Boudreaux, Binh C. Le, Kristy Kenney, Sean Trimble, Alexis A. Thompson
Summary: Thalassaemia is a genetic disorder causing anaemia and dependence on transfusions, with recent clinical advancements leading to reduced mortality and potential future gene therapies. Research revealed older patients with more iron-related comorbidities and complications, while younger patients had excess liver and heart iron and were on combination chelation therapy.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Chemistry, Medicinal
Hana Votavova, Zuzana Urbanova, David Kundrat, Michaela Dostalova Merkerova, Martin Vostry, Monika Hruba, Jaroslav Cermak, Monika Belickova
Summary: DFX improves hematopoiesis in anemic myelodysplastic syndrome patients by modulating immune response, suppressing negative regulators of blood cell differentiation, and upregulating heme metabolism.
Review
Immunology
Sarah Weber, Anastasia Parmon, Nina Kurrle, Frank Schnuetgen, Hubert Serve
Summary: MDS and AML patients often experience systemic iron overload issues, iron is closely associated with the pathogenesis and potential treatment strategies of the diseases, imbalances in iron homeostasis may lead to various cell death.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Pharmacology & Pharmacy
Laura Grech, Karen Borg, Joseph Borg
Summary: Beta-thalassaemia, a significant haemoglobinopathy, is currently managed with treatments such as repeated transfusions and iron-chelating therapy, while novel approaches like gene therapy and gene editing are being developed to address the underlying causes of the disease. These new therapies aim to correct the imbalance of globin chains, treat ineffective erythropoiesis, and improve iron overload associated with beta-thalassaemia.
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
(2022)
Article
Medicine, General & Internal
Christina Fragodimitri, Vasiliki Schiza, Anastasios Giakoumis, Kalliopi Drakaki, Anastasia Salichou, Fotis Karampatsos, Jacqueline Yousef, Markissia Karageorga, Vasili Berdoukas, Athanasios Aessopos
Summary: This study analyzed the benefits of the revolution in the management of beta-thalassemia major. The results showed that chelation therapy significantly optimized the indices and increased the proportion of patients with chelation success. Continuous magnetic resonance imaging and prolonged intensified chelation therapy can help patients achieve clearance of cardiac and liver iron load and reduce mortality.
Article
Hematology
Ahmad Zargari, Simon Wu, Anthea Greenway, Ken Cheng, Zane Kaplan
Summary: In Australia, dual chelation therapy (DCT) has been found to effectively reduce serum ferritin levels and may contribute to improvement in liver iron content in patients with thalassaemia.
Article
Urology & Nephrology
Osama Tanous, Yossi Azulay, Raphael Halevy, Tal Dujovny, Neta Swartz, Raul Colodner, Ariel Koren, Carina Levin
Summary: A high prevalence of renal tubular damage was observed in TDT patients, particularly those treated with DFX; uNAG was negatively associated with mean 10-year serum ferritin, suggesting ICT's involvement in tubular injury. A significant decline in eGFR compared to a decade earlier was observed only in patients currently treated with DFX. Strict follow-up of renal function in TDT patients is warranted.
Article
Radiology, Nuclear Medicine & Medical Imaging
Narumol Chaosuwannakit, Pattarapong Makarawate, Chinnadol Wanitpongpun
Summary: Cardiac T2* MRI is a valuable tool for monitoring cardiac iron overload in thalassemia major patients, allowing for early diagnosis and treatment of patients at risk of cardiac siderosis, thus reducing cardiac mortality associated with myocardial siderosis.
Article
Hematology
A. Kasprzak, K. Nachtkamp, M. Kondakci, T. Schroeder, G. Kobbe, A. Kuendgen, J. Kaivers, C. Rautenberg, R. Haas, N. Gattermann, N. Bonadies, U. Germing
Summary: The study indicates that adherence to ELN guidelines may not necessarily improve survival rates for patients with myelodysplastic syndromes (MDS), except for allogeneic stem cell transplantation (alloSCT) and iron chelation therapy (ICT). It is recommended to pursue alloSCT in all suitable candidates.
ANNALS OF HEMATOLOGY
(2021)
Review
Medicine, Research & Experimental
Michael Morales, Xiang Xue
Summary: Iron is crucial for cellular functions and human health, but excess iron can lead to oxidative DNA damage and cancer. Cancer cells are more dependent on iron than normal cells, making targeting iron metabolism in cancer cells an emerging and powerful therapeutic strategy.
Article
Oncology
Mathias Schneeweiss-Gleixner, Georg Greiner, Susanne Herndlhofer, Julia Schellnegger, Maria-Theresa Krauth, Karoline Gleixner, Friedrich Wimazal, Corinna Steinhauser, Michael Kundi, Renate Thalhammer, Ilse Schwarzinger, Gregor Hoermann, Harald Esterbauer, Manuela Fodinger, Peter Valent, Wolfgang R. Sperr
Summary: Although iron overload is a clinical challenge, little is known about the clinical impact of HFE-variants in myelodysplastic syndromes. The study found that HFE-variants H63D and C282Y are frequently detected in Austrian MDS patients, who have higher ferritin levels at diagnosis, accumulate iron slightly faster, and have a better progression-free survival than non-mutated patients.
AMERICAN JOURNAL OF CANCER RESEARCH
(2021)
Article
Oncology
Laurent Pascal
Summary: Iron overload is harmful to elderly patients with low-risk myelodysplastic syndromes (MDS), especially those with cardiovascular disease. A randomized study has shown improved event-free survival with Iron Chelation Therapy (ICT) in these patients. Further research is needed to better understand the benefits of ICT.
BULLETIN DU CANCER
(2023)
Review
Oncology
Jessica M. Stempel, Nikolai A. Podoltsev, Talib Dosani
Summary: Myelodysplastic syndromes (MDS) are a group of bone marrow disorders characterized by ineffective hematopoiesis, progressive cytopenias, and the potential to progress to acute myeloid leukemia (AML). The most common causes of morbidity and mortality in MDS patients are complications related to MDS itself rather than progression to AML. Supportive care measures are essential, especially in lower-risk MDS patients with a better prognosis, who require long-term monitoring of disease and treatment-related complications. This review discusses the frequent complications and supportive care interventions in MDS patients, including transfusion support, iron overload management, antimicrobial prophylaxis, considerations in the era of COVID-19, routine immunizations, and palliative care.
Article
Pharmacology & Pharmacy
Ruoxi Zhang, Bing Han
Summary: This study aimed to evaluate the efficacy and dose-effect relationship of DFX in patients with low-risk MDS and AA. The results showed that significant improvements in SF, haematological parameters, organ function, and overall survival can be achieved by reaching a certain accumulated dose of DFX. Low-risk MDS patients require a higher dose compared to those with AA.
JOURNAL OF CLINICAL PHARMACY AND THERAPEUTICS
(2022)