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
Chemistry, Multidisciplinary
Ola E. Nafea, Marwa Zakaria, Tamer Hassan, Sherif M. El Gebaly, Hosam E. Salah
Summary: The study revealed that urinary KIM-1 is an early predictive biomarker for decline in eGFR in patients with beta-TM on deferasirox therapy. Appropriate chelation therapy and good monitoring are crucial for early detection of renal dysfunction and timely intervention in these patients.
DRUG AND CHEMICAL TOXICOLOGY
(2022)
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
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.
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
Radiology, Nuclear Medicine & Medical Imaging
Vineeta Ojha, Kartik P. Ganga, Tulika Seth, Ambuj Roy, Nitish Naik, Priya Jagia, Gurpreet S. Gulati, Sanjeev Kumar, Sanjiv Sharma
Summary: This study assessed the importance of detecting MIO through CMR-T2* and found that GRS correlated with T2*, while GLS and GCS did not. FT-strain may be an effective way to identify early contractile dysfunction in TM patients.
EUROPEAN RADIOLOGY
(2021)
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
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
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)
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)
Article
Biochemistry & Molecular Biology
Hanan Kamel M. Saad, Alawiyah Awang Abd Rahman, Azly Sumanty Ab Ghani, Wan Rohani Wan Taib, Imilia Ismail, Muhammad Farid Johan, Abdullah Saleh Al-Wajeeh, Hamid Ali Nagi Al-Jamal
Summary: Iron homeostasis is regulated by hepcidin, which is influenced by factors such as iron stores, hypoxia, inflammation, and erythropoiesis. Beta-thalassemia patients exhibit iron deficiency, iron overload, and ineffective erythropoiesis. Recent research has identified new diagnostic markers and therapeutic targets for beta-thalassemia.
Article
Hematology
Jassada Buaboonnam, Chayamon Takpradit, Vip Viprakasit, Nattee Narkbunnam, Nassawee Vathana, Kamon Phuakpet, Kleebsabai Sanpakit, Bunchoo Pongtanakul
Summary: This study retrospectively reviewed the outcomes of 22 patients with transfusion-dependent thalassemia who had poor responses to once-daily deferasirox and were subsequently treated with twice-daily dosing of deferasirox. Results showed that the TDD-DFX treatment approach appeared to be effective in refractory patients with a favorable long-term safety profile, warranting further studies with larger groups and pharmacogenetic analyses.
MEDITERRANEAN JOURNAL OF HEMATOLOGY AND INFECTIOUS DISEASES
(2021)
Article
Pediatrics
Asmaa A. Mahmoud, Doaa M. Elian, Nahla MS. Abd El Hady, Heba M. Abdallah, Shimaa Abdelsattar, Fatma O. Khalil, Sameh A. Abd El Naby
Summary: This study identified abnormalities in renal function among patients with beta thalassemia major, with serum cystatin-C identified as a good marker for detecting glomerular dysfunction, and NAG and KIM-1 potentially useful for detecting kidney injury in these children. Further research is needed to explore the predictive role of these markers in renal complications in beta-TM patients.
Review
Medicine, General & Internal
Immacolata Tartaglione, Roberta Carfora, Davide Brotto, Maria Rosaria Barillari, Giuseppe Costa, Silverio Perrotta, Renzo Manara
Summary: This review examines the prevalence, features, course, and potential pathogenic factors of hearing impairment in patients with beta-thalassemia, highlighting the limited knowledge in this area and the need for large prospective studies with consistent diagnostic tools and criteria.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Hematology
Selen Bayraktaroglu, Nihal Karadas, Sebnem Onen, Deniz Yilmaz Karapinar, Yesim Aydinok
Summary: Monitoring liver and cardiac iron stores by MRI can help identify patients at risk and tailor iron chelation therapy for patients with thalassemia. However, in resource-poor regions, serum ferritin remains the main tool for monitoring iron status.
ANNALS OF HEMATOLOGY
(2022)
Article
Oncology
Elizabeth M. Wells, Nicole J. Ullrich, Kristy Seidel, Wendy Leisenring, Charles A. Sklar, Gregory T. Armstrong, Lisa Diller, Allison King, Kevin R. Krull, Joseph P. Neglia, Marilyn Stovall, Kimberly Whelan, Kevin C. Oeffinger, Leslie L. Robison, Roger J. Packer
Review
Pediatrics
Paul J. Phelan, Michelle N. Rheault
PEDIATRIC NEPHROLOGY
(2018)
Article
Medicine, General & Internal
Joseph G. Maliakkal, M. John Hicks, Mini Michael, David T. Selewski, Katherine Twombley, Michelle N. Rheault, Meredith Seamon, Jason M. Misurac, Cheryl L. Tran, Loretta Reyes, Joseph T. Flynn, Ali M. Onder, Alexandru R. Constantinescu, Vaishali Singh, Cynthia Pan, Abiodun Omoloja, Qiang Wu, William E. Smoyer, Guillermo Hidalgo, Scott E. Wenderfer
JOURNAL OF CLINICAL MEDICINE
(2020)
Article
Urology & Nephrology
Catherine Quinlan, Michelle N. Rheault
Summary: The glomerular basement membrane, primarily composed of type IV collagen, plays a vital role in kidney filtration. Specific isoforms of type IV collagen are essential for normal membrane function and mutations can lead to conditions such as Alport syndrome. Patients with mutations affecting type IV collagen exhibit wide variability in phenotype.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)
Letter
Urology & Nephrology
Christian Hanna, Loren P. Herrera Hernandez, Lihong Bu, Sarah Kizilbash, Lydia Najera, Michelle N. Rheault, Jan Czyzyk, Anne M. Kouri
KIDNEY INTERNATIONAL
(2021)
Article
Hematology
Lucie M. Turcotte, Jillian A. Whitton, Wendy M. Leisenring, Rebecca M. Howell, Joseph P. Neglia, Rachel Phelan, Kevin C. Oeffinger, Kirsten K. Ness, William G. Woods, E. Anders Kolb, Leslie L. Robison, Gregory T. Armstrong, Eric J. Chow
Summary: The five-year survival rate for childhood acute myeloid leukemia (AML) has increased due to advancements in treatment and supportive care. However, the long-term health outcomes of AML survivors remain unclear. This study examined the incidence of late mortality and chronic health conditions (CHC) among 5-year AML survivors diagnosed between 1970 and 1999. The results showed that hematopoietic cell transplantation (HCT) was associated with higher late mortality, but the incidence of CHC has decreased over time for all treatment groups.
Article
Oncology
F. Lennie Wong, Janie M. Lee, Wendy M. Leisenring, Joseph P. Neglia, Rebecca M. Howell, Susan A. Smith, Kevin C. Oeffinger, Chaya S. Moskowitz, Tara O. Henderson, Ann Mertens, Paul C. Nathan, Yutaka Yasui, Wendy Landier, Gregory T. Armstrong, Leslie L. Robison, Smita Bhatia
Summary: This study evaluated the outcomes and cost-effectiveness of breast cancer screening using mammography and breast magnetic resonance imaging (MRI) in female chest-irradiated childhood Hodgkin lymphoma survivors. The results showed that annual mammography screening at age 30-74 years is effective and cost-effective in this population.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Oncology
Danielle Novetsky Friedman, Pamela J. Goodman, Wendy M. Leisenring, Lisa R. Diller, Susan L. Cohn, Rebecca M. Howell, Susan A. Smith, Emily S. Tonorezos, Suzanne L. Wolden, Joseph P. Neglia, Kirsten K. Ness, Todd M. Gibson, Paul C. Nathan, Brent R. Weil, Leslie L. Robison, Kevin C. Oeffinger, Gregory T. Armstrong, Charles A. Sklar, Tara O. Henderson
Summary: This study examines the risk of late mortality, subsequent malignant neoplasms, and chronic health conditions in survivors of neuroblastoma diagnosed in infancy. The results show that the overall risk is relatively low, and there has been a decline in chronic health conditions with reduced exposure to radiation therapy in recent treatment eras.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Oncology
Brent R. Weil, Andrew J. Murphy, Qi Liu, Rebecca M. Howell, Susan A. Smith, Christopher B. Weldon, Elizabeth A. Mullen, Arin L. Madenci, Wendy M. Leisenring, Joseph P. Neglia, Lucie M. Turcotte, Kevin C. Oeffinger, Amanda M. Termuhlen, Sogol Mostoufi-Moab, Jennifer M. Levine, Kevin R. Krull, Yutaka Yasui, Leslie L. Robison, Gregory T. Armstrong, Eric J. Chow, Saro H. Armenian
Summary: This study evaluated long-term morbidity and mortality rates among unilateral, nonsyndromic Wilms tumor (WT) survivors based on conventional treatment regimens. The results showed that survivors in different treatment groups were at risk for late mortality and chronic health conditions, especially an elevated risk for intestinal obstruction and kidney failure. The intensity of treatment was associated with an increased risk for severe chronic health conditions.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Oncology
Adam J. Esbenshade, Lu Lu, Debra L. Friedman, Kevin C. Oeffinger, Gregory T. Armstrong, Kevin R. Krull, Joseph P. Neglia, Wendy M. Leisenring, Rebecca Howell, Robyn Partin, Amy Sketch, Leslie L. Robison, Kirsten K. Ness
Summary: Using a geriatric rating scale, researchers found that childhood cancer survivors accumulate diseases at a faster rate compared to their siblings and the general population.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Pediatrics
Michelle N. Rheault, Heather M. McLaughlin, Asia Mitchell, Lauren E. Blake, Prasad Devarajan, Bradley A. Warady, Keisha L. Gibson, Kenneth V. Lieberman
Summary: This study evaluated the diagnostic yield and phenotypic spectrum of children who received genetic testing through the KIDNEYCODE sponsored genetic testing program. A positive genetic diagnosis was observed in 28.1% of children, with Alport syndrome and FSGS being the most common conditions identified. The study highlights the importance of early genetic diagnosis in guiding appropriate treatment and identifying at-risk family members.
PEDIATRIC NEPHROLOGY
(2023)
Article
Medicine, General & Internal
Michelle N. Rheault, Charles E. Alpers, Jonathan Barratt, Stewart Bieler, Pietro Canetta, Dong-Wan Chae, Gaia Coppock, Ulysses Diva, Loreto Gesualdo, Hiddo J. L. Heerspink, Jula K. Inrig, Gianna M. Kirsztajn, Donald Kohan, Radko Komers, Laura A. Kooienga, Kenneth Lieberman, Alex Mercer, Irene L. Noronha, Vlado Perkovic, Jai Radhakrishnan, William Rote, Brad Rovin, Vladimir Tesar, Hernan Trimarchi, James Tumlin, Muh Geot Wong, Howard Trachtman, DUPRO Steering Comm, DUPLEX Investigators
Summary: In the treatment of FSGS, sparsentan showed a better reduction in proteinuria compared to irbesartan. However, there were no significant differences in eGFR slope between the two groups at 108 weeks. Both sparsentan and irbesartan demonstrated similar safety profiles.
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Editorial Material
Urology & Nephrology
Michelle N. Rheault
Article
Pediatrics
Daniella Levy Erez, Michelle N. Rheault
Summary: Alport syndrome, a progressive hereditary disorder, has different manifestations in women depending on their genotype. Early diagnosis and treatment are important for women with Alport syndrome. Similar to men, women and girls with Alport syndrome are at risk for kidney disease and require monitoring and treatment.
CURRENT PEDIATRICS REPORTS
(2022)
Review
Urology & Nephrology
Mahmoud Kallash, Michelle N. Rheault