Article
Hematology
Paul J. Schmidt, Kevin Fitzgerald, James S. Butler, Mark D. Fleming
Summary: Beta-thalassemias and hereditary hemochromatosis result from mutations in beta-globin and transferrin receptor 2, respectively, leading to ineffective erythropoiesis and iron overload. Inhibiting TMPRSS6 expression with siRNA formulation induces hepcidin, mitigates anemia, and reduces iron overload in mouse models. Targeting TFR2 with siRNA treatment also increases hepcidin expression and reduces total body iron burden, suggesting a potential treatment strategy for these conditions.
AMERICAN JOURNAL OF HEMATOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Yen-Chien Lee, Chi-Tai Yen, Yen-Ling Lee, Rong-Jane Chen
Summary: Thalassemia is a common genetic disorder, and Thalassemia intermedia is a non-transfusion-dependent type. Iron overload is a common issue in Thalassemia intermedia patients. The effectiveness of iron chelation therapy in improving patient outcomes is still debated.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Coralia Cotoraci, Alina Ciceu, Alciona Sasu, Anca Hermenean
Summary: Anemia is a common health issue affecting people of all ages, with treatment options including blood transfusion and oral iron supplements, which may have side effects and poor absorption. Biologically active compounds and plant extracts show therapeutic potential as alternative treatments for various types of anemia.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, General & Internal
Antonella Meloni, Laura Pistoia, Maria Rita Gamberini, Paolo Ricchi, Valerio Cecinati, Francesco Sorrentino, Liana Cuccia, Massimo Allo, Riccardo Righi, Priscilla Fina, Ada Riva, Stefania Renne, Giuseppe Peritore, Stefano Dalmiani, Vincenzo Positano, Emilio Quaia, Filippo Cademartiri, Alessia Pepe
Summary: The study revealed a significant association between pancreatic iron overload and disturbances in glucose metabolism and heart disease in patients with thalassemia intermedia. Pancreatic iron overload was more common in regularly transfused patients and was linked to splenectomy and hepatitis C virus infection. A normal pancreas T2* value demonstrated a 100% negative predictive value for cardiac iron overload.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Engineering, Electrical & Electronic
Ahmed Karam Eldaly, Ayman M. Khalifa
Summary: This article proposes a general framework for estimating iron overload in the liver using magnetic resonance imaging (MRI), considering various liver models. The iron overload estimation is formulated as a minimization problem with regularization functions assigned to unknown model parameters. An alternating direction method of multipliers (ADMM) is applied for parameter estimation. Three models were tested and compared using synthetic datasets, showing good correlation with ground truth T2* measurements. The proposed approaches were also evaluated using MRI scans of patients, demonstrating better performance than existing methods.
DIGITAL SIGNAL PROCESSING
(2023)
Article
Multidisciplinary Sciences
Carla Casu, Alison Liu, Gianluca De Rosa, Audrey Low, Aae Suzuki, Sayantani Sinha, Yelena Z. Ginzburg, Charles Abrams, Mariam Aghajan, Shuling Guo, Stefano Rivella
Summary: Polycythemia Vera (PV) is a chronic myeloproliferative neoplasm caused by a driver mutation in the JAK2 gene, leading to overproduction of mature erythrocytes and high hematocrit levels. Therapeutic phlebotomy is the standard treatment, but using antisense oligonucleotides against Tmprss6 mRNA to increase hepcidin could provide a less invasive alternative for PV patients.
Article
Medical Laboratory Technology
Mohammadreza Saeidnia, Pooria Fazeli, Mehran Erfani, Peyman Nowrouzi-Sohrabi, Gholamhossein Tamaddon, Mehran Karimi
Summary: Curcumin supplementation has been shown to effectively alleviate iron overload in patients with beta-thalassemia intermedia.
CLINICAL LABORATORY
(2022)
Article
Medicine, General & Internal
Tubagus Djumhana Atmakusuma, Intan Russiana Nasution, Noorwati Sutandyo
Summary: Iron overload is a major problem in thalassemia patients, but there was no significant change in MDA levels before and after transfusion. The study did not find a correlation between markers of iron overload and MDA levels in thalassemia patients both before and after transfusion.
INTERNATIONAL JOURNAL OF GENERAL MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Adisak Tantiworawit, Sujaree Khemakapasiddhi, Thanawat Rattanathammethee, Sasinee Hantrakool, Chatree Chai-Adisaksopha, Ekarat Rattarittamrong, Lalita Norasetthada, Pimlak Charoenkwan, Somdet Srichairatanakool, Kanda Fanhchaksai
Summary: The study aimed to evaluate the correlation between serum hepcidin and ferritin levels in thalassemia patients, with results showing no significant correlations among the three groups. The regulation of hepcidin in thalassemia patients is likely to be more affected by erythropoietic activity rather than iron storage.
BIOSCIENCE REPORTS
(2021)
Review
Gastroenterology & Hepatology
Kanokwan Pinyopornpanish, Adisak Tantiworawit, Apinya Leerapun, Atiwat Soontornpun, Satawat Thongsawat
Summary: Iron overload is a condition characterized by excessive iron deposit in organs, primarily the liver, leading to liver morbidity and mortality. It can be divided into primary and secondary causes, with secondary iron overload being more prevalent and associated with diverse causes across different geographic regions. The main causes of secondary iron overload are iron-loading anemias and chronic liver disease. This review provides an overview of the causes, pathophysiology, liver-related outcomes, disease outcomes, and treatments of secondary iron overload.
JOURNAL OF CLINICAL AND TRANSLATIONAL HEPATOLOGY
(2023)
Article
Medicine, General & Internal
Fariha Nasreen, Attika Khalid, Lubna Zafar, Suhaib Ahmad, Asma Shaikh
Summary: This study aimed to determine the frequency of secondary modifiers in non-transfusion dependent thalassemia. Xmn-1 and BCL11A polymorphisms were analyzed using ARMS and RFLP PCR. The results showed that BCL11A and Xmn-1 polymorphisms are important secondary modifiers in patients with thalassaemia intermedia in Northern Punjab.
PAKISTAN JOURNAL OF MEDICAL SCIENCES
(2023)
Review
Hematology
Maria Domenica Cappellini, Ali T. Taher, Amit Verma, Farrukh Shah, Olivier Hermine
Summary: Hematologic disorders like myelodysplastic syndromes and beta-thalassemia are characterized by ineffective erythropoiesis and anemia, usually managed through regular blood transfusions. However, treatments targeting the underlying mechanisms of ineffective erythropoiesis are limited, leading to a burden on patients, caregivers, and healthcare systems. This article provides an overview of the role of ineffective erythropoiesis in these disorders, discusses unmet needs in targeting it, and describes current management strategies and emerging treatments.
Article
Multidisciplinary Sciences
Mingli Jin, Yin Jiang, Qi Zhao, Zhihua Pan, Fang Xiao
Summary: The study evaluates the diagnostic value of T2 relaxation time for determining liver iron grades in the presence of fat and fibrosis. The results show that T2 relaxation time can assess histologically determined liver iron grades, regardless of coexisting liver steatosis or fibrosis. It is more accurate for higher iron grading.
Article
Multidisciplinary Sciences
Sebastien P. Dion, Antoine Desilets, Gabriel Lemieux, Richard Leduc
Summary: TMPRSS6 is a protease involved in iron homeostasis, and its different isoforms can interact and affect the activity of other proteins. Specifically, isoform 2 reduces hepcidin production by cleaving surface proteins, while isoforms 3 and 4 decrease the proteolytic activity of isoform 2 and behave as dominant negative regulators.
Article
Medicine, General & Internal
Mohammad G. Shaalan, Meaad K. Hassan, Hamid J. Al-Shanoof, Lamia M. Al Naama
Summary: This study found that patients with I3-thalassemia have renal involvement and abnormal tubular and glomerular functions. Especially in older age, with high serum ferritin levels and deferoxamine therapy, the renal function deterioration was more significant.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Gastroenterology & Hepatology
Chloe Latour, Celine Besson-Fournier, Delphine Meynard, Laura Silvestri, Ophelie Gourbeyre, Patricia Aguilar-Martinez, Paul J. Schmidt, Mark D. Fleming, Marie-Paule Roth, Helene Coppin
Article
Genetics & Heredity
Haifa H. Jabara, Steven E. Boyden, Janet Chou, Narayanaswamy Ramesh, Michel J. Massaad, Halli Benson, Wayne Bainter, David Fraulino, Fedik Rahimov, Colin Sieff, Zhi-Jian Liu, Salem H. Alshemmari, Basel K. Al-Ramadi, Hasan Al-Dhekri, Rand Arnaout, Mohammad Abu-Shukair, Anant Vatsayan, Eli Silver, Sanjay Ahuja, E. Graham Davies, Martha Sola-Visner, Toshiro K. Ohsumi, Nancy C. Andrews, Luigi D. Notarangelo, Mark D. Fleming, Waleed Al-Herz, Louis M. Kunkel, Raif S. Geha
Article
Oncology
Kim Cattivelli, Dean R. Campagna, Klaus Schmitz-Abe, MatthewM. Heeney, Hassan M. Yaish, Amy E. Caruso Brown, Susan Kearney, Kelly Walkovich, Kyriacos Markianos, Mark D. Fleming, Ellis J. Neufeld
PEDIATRIC BLOOD & CANCER
(2017)
Article
Medicine, Research & Experimental
Raphael Carapito, Martina Konantz, Catherine Paillard, Zhichao Miao, Angelique Pichot, Magalie S. Leduc, Yaping Yang, Katie L. Bergstrom, Donald H. Mahoney, Deborah L. Shardy, Ghada Alsaleh, Lydie Naegely, Aline Kolmer, Nicodeme Paul, Antoine Hanauer, Veronique Rolli, Joelle S. Mueller, Elisa Alghisi, Loic Sauteur, Cecile Macquin, Aurore Morlon, Consuelo Sebastia Sancho, Patrizia Amati-Bonneau, Vincent Procaccio, Anne-Laure Mosca-Boidron, Nathalie Marle, Nael Osmani, Olivier Lefebvre, Jacky G. Goetz, Sule Unal, Nurten A. Akarsu, Mirjana Radosavljevic, Marie-Pierre Chenard, Fanny Rialland, Audrey Grain, Marie-Christine Bene, Marion Eveillard, Marie Vincent, Julien Guy, Laurence Faivre, Christel Thauvin-Robinet, Julien Thevenon, Kasiani Myers, Mark D. Fleming, Akiko Shimamura, Elodie Bottollier-Lemallaz, Eric Westhof, Claudia Lengerke, Bertrand Isidor, Seiamak Bahram
JOURNAL OF CLINICAL INVESTIGATION
(2017)
Article
Multidisciplinary Sciences
Anthony T. Nguyen, Miguel A. Prado, Paul J. Schmidt, Anoop K. Sendamarai, Joshua T. Wilson-Grady, Mingwei Min, Dean R. Campagna, Geng Tian, Yuan Shi, Verena Dederer, Mona Kawan, Nathalie Kuehnle, Joao A. Paulo, Yu Yao, Mitchell J. Weiss, Monica J. Justice, Steven P. Gygi, Mark D. Fleming, Daniel Finley
Editorial Material
Hematology
John M. Gansner, Elissa Furutani, Dean R. Campagna, Mark D. Fleming, Akiko Shimamura
AMERICAN JOURNAL OF HEMATOLOGY
(2018)
Article
Hematology
Inga Hofmann, Mitchell J. Geer, Timo Vogtle, Andrew Crispin, Dean R. Campagna, Alastair Barr, Monica L. Calicchio, Silke Heising, Johanna P. van Geffen, Marijke J. E. Kuijpers, Johan W. M. Heemskerk, Johannes A. Eble, Klaus Schmitz-Abe, Esther A. Obeng, Michael Douglas, Kathleen Freson, Corinne Pondarre, Remi Favier, Gavin E. Jarvis, Kyriacos Markianos, Ernest Turro, Willem H. Ouwehand, Alexandra Mazharian, Mark D. Fleming, Yotis A. Senis
Letter
Hematology
Matthew M. Heeney, Dongjing Guo, Luigia De Falco, Dean R. Campagna, Gordana Olbina, Paige P. -C. Kao, Klaus Schmitz-Abe, Fedik Rahimov, Patrick Gutschow, Keith Westerman, Vaughn Ostland, Tracy Jackson, Robert E. Klaassen, Kyriacos Markianos, Karin E. Finberg, Achille Iolascon, Mark Westerman, Wendy B. London, Mark D. Fleming
Review
Hematology
Sarah Ducamp, Mark D. Fleming
Article
Hematology
Juliana Xavier-Ferrucio, Vanessa Scanlon, Xiuqi Li, Ping-Xia Zhang, Larisa Lozovatsky, Nadia Ayala-Lopez, Toma Tebaldi, Stephanie Halene, Chang Cao, Mark D. Fleming, Karin E. Finberg, Diane S. Krause
Article
Hematology
Paul J. Schmidt, Monica L. Hollowell, Kevin Fitzgerald, James S. Butler, Mark D. Fleming
AMERICAN JOURNAL OF HEMATOLOGY
(2020)
Article
Hematology
Paul J. Schmidt, Kevin Fitzgerald, James S. Butler, Mark D. Fleming
Summary: Beta-thalassemias and hereditary hemochromatosis result from mutations in beta-globin and transferrin receptor 2, respectively, leading to ineffective erythropoiesis and iron overload. Inhibiting TMPRSS6 expression with siRNA formulation induces hepcidin, mitigates anemia, and reduces iron overload in mouse models. Targeting TFR2 with siRNA treatment also increases hepcidin expression and reduces total body iron burden, suggesting a potential treatment strategy for these conditions.
AMERICAN JOURNAL OF HEMATOLOGY
(2021)
Letter
Oncology
Jamie Heather Oakley, Dean R. Campagna, Liang Sun, Shira Rockowitz, Piotr Sliz, Jeanne Boudreaux, Gary Woods, Mark D. Fleming
PEDIATRIC BLOOD & CANCER
(2022)