Article
Hematology
Emilie Virot, Isabelle Thuret, Sabine Jardel, Raoul Herbrecht, Florence Lachenal, Francois Lionnet, Marie-Jose Lucchini, Julie Machin, Stanislas Nimubona, Jean-Antoine Ribeil, Frederic Galacteros, Giovanna Cannas, Arnaud Hot
Summary: Pregnancy in transfused beta-thalassemia women poses challenges due to chronic anemia, hypogonadotropic hypogonadism, and iron chelation. However, rare obstetrical and fetal complications were observed in pregnancies of transfused beta-thalassemia women registered in the French National Registry, with more frequent use of ART and cesarean sections compared to control subjects, and smaller infant weight at birth despite delivery at full term.
ANNALS OF HEMATOLOGY
(2022)
Review
Multidisciplinary Sciences
Yesim Aydinok
Summary: Combination chelation therapy is a viable option for transfusion-dependent thalassemia patients who have not achieved iron balance with monotherapy or need intensified treatment for rapid iron reduction. It allows for a more personalized approach, improving tolerability, adherence, and quality of life. Real-life data highlights the importance of compliance in achieving meaningful reduction in iron overload compared to monotherapy.
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
(2023)
Article
Medicine, General & Internal
Reem Aldwaik, Tamara Abu Mohor, Israa Idyabi, Salam Warasna, Shatha Abdeen, Bashar Karmi, Rania Abu Seir
Summary: Management of beta-thalassemia in the West Bank presents challenges due to the lack of available therapies, leading to recurrent transfusions. Characteristics of patients include anemia, iron overload, and abnormal liver function tests. Iron chelation medication choice is associated with serum ferritin levels, highlighting the need for personalized assessment and follow-up protocols.
FRONTIERS IN MEDICINE
(2021)
Article
Hematology
Richa Shah, Aashaka Shah, Sherif M. Badawy
Summary: Regular blood transfusions in thalassemia patients can lead to iron overload and related complications. Deferiprone, one of the FDA-approved iron chelators, is effective at reducing iron levels and has gained approval for twice-daily administration.
EXPERT REVIEW OF HEMATOLOGY
(2023)
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
Biology
Alkistis Adramerina, Nikoleta Printza, Emmanouel Hatzipantelis, Symeon Symeonidis, Labib Tarazi, Aikaterini Teli, Marina Economou
Summary: Thalassemia is a hereditary anemia that requires regular blood transfusions and chelation therapy. The new deferasirox film-coated tablet (DFX FCT) offers a more convenient and well-tolerated treatment option, although it may lead to increased adverse events in younger patients. The study confirmed the safety of DFX FCT in older children, but higher doses were required for effective chelation.
Article
Health Care Sciences & Services
Antonella Meloni, Laura Pistoia, Paolo Ricchi, Maria Caterina Putti, Maria Rita Gamberini, Liana Cuccia, Giuseppe Messina, Francesco Massei, Elena Facchini, Riccardo Righi, Stefania Renne, Giuseppe Peritore, Vincenzo Positano, Filippo Cademartiri
Summary: This study evaluated the impact of genotype on iron content and complications in children with transfusion-dependent beta-thalassemia. The results showed an association between genotype and cardiac and pancreatic iron overload, indicating the predictive value of genotype in phenotypic features and clinical management.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Pediatrics
Rafaa Mohamed, Amir Hamzah Abdul Rahman, Farin Masra, Zarina Abdul Latiff
Summary: This study aimed to determine the association between mean serum ferritin level and self-reported level of adherence to iron chelation therapy in transfusion dependent thalassemia (TDT) adolescents in Hospital Tengku Ampuan Afzan (HTAA), Kuantan and Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM), Cheras; and to determine the association between socio-demographic factors and patients' knowledge on thalassemia and iron chelation therapy with the level of adherence.
FRONTIERS IN PEDIATRICS
(2022)
Article
Medicine, General & Internal
Jessica van Hattem, Philip Maes, Tonya Marianne Esterhuizen, Ann Devos, Martin Ruppert, Jaques van Heerden
Summary: Limited data on erythrocytapheresis in children, adolescents, and young adults have been published. This study aimed to evaluate the effectiveness of erythrocytapheresis, either alone or in combination with iron chelation therapy, in managing iron overload in patients with hemoglobinopathies. The results showed that erythrocytapheresis significantly reduced serum ferritin levels and had a better effect compared to iron chelation therapy alone. This study demonstrates that erythrocytapheresis is a promising therapy for treating transfusion-related iron overload.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Chemistry, Medicinal
Khaled M. Musallam, Ali T. Taher, Antonis Kattamis, Kevin H. M. Kuo, Sujit Sheth, Maria Domenica Cappellini
Summary: Over the past years, evidence has accumulated on the harmful clinical consequences of untreated anemia in patients with non-transfusion-dependent f3-thalassemia (NTDT). Currently, there are no approved pharmacologic agents for anemia management in NTDT, and available options such as splenectomy, transfusion therapy, and hydroxyurea have their own limitations, especially for long-term use. Luspatercept, an erythroid maturation agent, was evaluated in a Phase 2 trial and demonstrated a significant benefit in raising hemoglobin level by at least 1 g/dL in adults with NTDT and a baseline hemoglobin level <= 10 g/dL. These findings led to the approval of luspatercept by the European Commission for treating anemia in adults with NTDT, providing the first evidence-based approach for improving anemia in this patient population.
DRUG DESIGN DEVELOPMENT AND THERAPY
(2023)
Review
Chemistry, Analytical
Zahra Tariq, Muhammad Imran Qadeer, Iram Anjum, Christophe Hano, Sumaira Anjum
Summary: Thalassemia is a monogenic autosomal recessive disorder caused by mutations, which affect hemoglobin production. Conventional therapeutic methods such as transfusion and iron chelation therapy have limitations, leading to the demand for advanced therapies. Nanotechnology-based applications have emerged as simple, convenient, and cost-effective methods for theragnostics. This review summarizes the potential of nanotechnology in developing theragnostic approaches for diagnosing thalassemia-causing gene mutations and employing nano-based therapeutic procedures.
Article
Biology
Michele Malagu, Federico Marchini, Alessio Fiorio, Paolo Sirugo, Stefano Clo, Elisa Mari, Maria Rita Gamberini, Claudio Rapezzi, Matteo Bertini
Summary: Patients with beta-thalassemia have a higher incidence of atrial fibrillation compared to the general population. Its pathophysiology is closely related to anemia, iron overload, hemolysis, inflammation, atrial dilatation, fibrosis, and remodeling. The clinical presentation is highly symptomatic, significantly impacting quality of life and prognosis. Rhythm control with chelation drugs is the preferred treatment approach.
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
Multidisciplinary Sciences
John C. Wood
Summary: Thalassemias are common hereditary diseases due to their protective effect against malarial infection. Patients with thalassemia exhibit imbalanced hemoglobin formation, oxidative stress, and apoptosis of red cell precursors. The cardiovascular consequences of thalassemia have changed significantly over time due to advancements in treatment.
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
(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.
Letter
Hematology
Filomena Longo, Barbara Gianesin, Vincenzo Voi, Irene Motta, Valeria Maria Pinto, Andrea Piolatto, Anna Spasiano, Giovan Battista Ruffo, Maria Rita Gamberini, Susanna Barella, Raffaella Mariani, Carmelo Fidone, Rosamaria Rosso, Maddalena Casale, Domenico Roberti, Chiara Dal Zotto, Angelantonio Vitucci, Federico Bonetti, Lorella Pitrolo, Micol Quaresima, Michela Ribersani, Alessandra Quota, Francesco Arcioni, Saveria Campisi, Antonella Massa, Elisa De Michele, Roberto Lisi, Maurizio Miano, Sabrina Bagnato, Massimo Gentile, Valentina Carrai, Maria Caterina Putti, Marilena Serra, Carmen Gaglioti, Margerita Migone De Amicis, Giovanna Graziadei, Anna De Giovanni, Paolo Ricchi, Manuela Balocco, Sabrina Quintino, Zelia Borsellino, Monica Fortini, Anna Rita Denotti, Immacolata Tartaglione, Andrea Beccaria, Marco Marziali, Aurelio Maggio, Silverio Perrotta, Alberto Piperno, Aldo Filosa, Maria Domenica Cappellini, Lucia De Franceschi, Antonio Piga, Gian Luca Forni
AMERICAN JOURNAL OF HEMATOLOGY
(2022)
Article
Hematology
Valeria Maria Pinto, Khaled M. Musallam, Giorgio Derchi, Giovanna Graziadei, Marianna Giuditta, Raffaella Origa, Susanna Barella, Gavino Casu, Annamaria Pasanisi, Filomena Longo, Maddalena Casale, Roberta Miceli, Pierluigi Merella, Immacolata Tartaglione, Antonio Piga, Maria Domenica Cappellini, Barbara Gianesin, Gian Luca Forni
Article
Oncology
Raffaella Origa, Barbara Gianesin, Filomena Longo, Rosario Di Maggio, Elena Cassinerio, Maria Rita Gamberini, Valeria Maria Pinto, Antonella Quarta, Maddalena Casale, Giorgio La Nasa, Giovanni Caocci, Antonio Piroddi, Andrea Piolatto, Alessandra Di Mauro, Claudia Romano, Antonia Gigante, Susanna Barella, Aurelio Maggio, Giovanna Graziadei, Silverio Perrotta, Gian Luca Forni
Summary: This study evaluated the relationship between hemoglobinopathies and malignant tumors. The findings suggest that the overall risk of cancer is not increased in patients with hemoglobinopathies, but hepatocellular carcinoma remains the most frequent tumor. The recent stability in the incidence of hepatocellular carcinoma may be explained by advancements in treatment.
Article
Hematology
Gian Luca Forni, Barbara Gianesin, Khaled M. Musallam, Filomena Longo, Rosamaria Rosso, Roberto Lisi, Maria Rita Gamberini, Valeria Maria Pinto, Giovanna Graziadei, Angelantonio Vitucci, Federico Bonetti, Pellegrino Musto, Antonio Piga, Maria Domenica Cappellini, Caterina Borgna-Pignatti
Summary: We present data on survival and complications in a cohort of 709 transfusion-dependent beta-thalassemia major patients in Italy. Overall survival probability at 30 years was 83.6%, with better survival in the younger birth cohort and in females. The most common disease-related causes of death were heart disease and bone marrow transplant complications. Survival continues to improve with access to care, best practice sharing, research, and collaboration between centers.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Article
Hematology
Immacolata Andolfo, Vittoria Monaco, Flora Cozzolino, Barbara Eleni Rosato, Roberta Marra, Vincenza Cerbone, Valeria Maria Pinto, Gian Luca Forni, Sule Unal, Achille Iolascon, Maria Monti, Roberta Russo
Article
Mechanics
Ivano Colombaro, Andrea Giusti, Andrea Mentrelli
Summary: We investigate the specific attenuation factor for the Bessel models of viscoelasticity and find that the quality factor for this class can be expressed in terms of Kelvin functions. These findings confirm the analytical results from previous studies on the rheological properties of these models.
Letter
Hematology
Veronica Bordoni, Maddalena Casale, Valeria Maria Pinto, Rita Carsetti, Barbara Gianesin, Maria Rita Gamberini, Leila Mazdai, Susanna Barella, Anna Rita Denotti, Francesca Colavita, Silverio Perrotta, Aurelio Maggio, Lorella Pitrolo, Sabrina Quintino, Marco Caminati, Filippo Mazzi, Jacopo Ceolan, Lucia De Franceschi, Gian Luca Forni, Franco Locatelli, Chiara Agrati
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Letter
Hematology
Valeria Maria Pinto, Roberta Russo, Sabrina Quintino, Barbara Eleni Rosato, Roberta Marra, Federica Del Giudice, Massimo Mogni, Massimo Maffei, Achille Iolascon, Gian Luca Forni, Immacolata Andolfo
Summary: This study provides an overview of the workflow and includes some examples of the achieved results.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Letter
Oncology
Raffaella Origa, Barbara Gianesin, Filomena Longo, Rosario Di Maggio, Elena Cassinerio, Maria Rita Gamberini, Valeria Maria Pinto, Maddalena Casale, Giorgio La Nasa, Giovanni Caocci, Antonio Piroddi, Andrea Piolatto, Alessandra Di Mauro, Claudia Romano, Antonia Gigante, Susanna Barella, Aurelio Maggio, Giovanna Graziadei, Silverio Perrotta, Gian Luca Forni
Article
Astronomy & Astrophysics
Andrea Giusti, Serena Giardino, Valerio Faraoni
Summary: In this paper, the recently proposed first-order thermodynamics of scalar-tensor gravity is refined and slightly extended to include gravitational scalar fields with timelike and past-directed gradients. The implications and subtleties of this situation are discussed, and an exact cosmological solution of scalar-tensor theory in first-order thermodynamics is revisited based on these results.
GENERAL RELATIVITY AND GRAVITATION
(2023)
Article
Medicine, General & Internal
Filomena Longo, Irene Motta, Valeria Pinto, Andrea Piolatto, Paolo Ricchi, Immacolata Tartaglione, Raffaella Origa
Summary: This paper, developed by experts from the Italian Society of Thalassemia and Hemoglobinopathies (SITE), aims to address the limited expertise about the use of luspatercept in beta-thalassemia and to guide its clinical use. After introducing the core features of luspatercept, a comprehensive set of questions covering relevant aspects for the practical management of this therapeutic option is discussed.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Medicine, General & Internal
Valeria Maria Pinto, Lucia De Franceschi, Barbara Gianesin, Antonia Gigante, Giovanna Graziadei, Letizia Lombardini, Giovanni Palazzi, Alessandra Quota, Rodolfo Russo, Laura Sainati, Donatella Venturelli, Gian Luca Forni, Raffaella Origa
Summary: The worldwide prevalence of sickle cell trait exceeds 300 million, making it one of the most common monogenic diseases. Reproductive counseling is crucial due to the high frequency of sickle cell disease. Additionally, Sickle Cell Trait (SCT) is associated with clinical complications such as exertional injury, chronic kidney disease, and pregnancy and surgery complications. The expert panel emphasizes the importance of increasing knowledge about these manifestations for healthcare providers.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Physics, Particles & Fields
Valerio Faraoni, Serena Giardino, Andrea Giusti, Robert Vanderwee
Summary: We revisit the analogy between a minimally coupled scalar field in general relativity and a perfect fluid, correcting previous identifications of effective temperature and chemical potential. This provides a useful complementary picture for the first-order thermodynamics of scalar-tensor gravity, paving the way for the Einstein frame formulation (which eluded previous attempts) and raises interesting questions to further develop the analogy.
EUROPEAN PHYSICAL JOURNAL C
(2023)
Article
Biochemistry & Molecular Biology
Valeria Marini, Valeria Maria Pinto, Manuela Stella, Carmen Fucile, Francesca Lantieri, Giacomo Luci, Barbara Gianesin, Lorenzo Bacigalupo, Gian Luca Forni, Francesca Mattioli
Summary: This study analyzed deferasirox plasma concentration in 57 transfusion-dependent anemic patients and found that age, creatinine, and direct bilirubin were positively correlated with drug concentration, while Liver Iron Concentration (LIC), ferritin, and eGFR were negatively correlated. The study suggests that the dose of deferasirox can be reduced in elderly patients to ensure efficacy in controlling LIC and minimize impact on renal function.
CURRENT DRUG METABOLISM
(2022)
Article
Astronomy & Astrophysics
Valerio Faraoni, Andrea Giusti, Sonia Jose, Serena Giardino
Summary: In this paper, the possibility of zero-temperature equilibrium states other than Einstein gravity is discussed in the context of first-order thermodynamics of scalar-tensor gravity. Pathological theories such as Brans-Dicke theory, Palatini f(R) gravity, and cuscuton gravity, all with non-dynamical scalar fields, are considered. The formalism is also extended to Nordstrom gravity, which has only one scalar degree of freedom and exhibits negative temperature relative to general relativity.