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
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)
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
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)
Review
Hematology
Sujit Sheth, Ali T. Taher, Thomas D. Coates, Antonis Kattamis, Maria Domenica Cappellini
Summary: Patients with transfusion-dependent beta-thalassaemia rely on lifelong, regular red blood cell transfusions for survival. However, frequent blood transfusions come with risks such as iron overload, transfusion-transmitted disease, and reduced quality of life. Luspatercept has shown efficacy in reducing the need for transfusions in these patients by promoting erythroid maturation independently of erythropoietin. This review discusses treatment initiation, ongoing evaluation, dose adjustment, adverse event management, and guidance on determining clinical benefit in transfusion-dependent beta-thalassaemia patients receiving luspatercept.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Filomena Longo, Andrea Piolatto, Giovanni Battista Ferrero, Antonio Piga
Summary: Beta-thalassaemia is a rare genetic condition caused by mutations in the beta-globin gene, resulting in severe iron-loading anaemia. Recent research has shed light on multiple mechanisms involved in the pathophysiology of the disease, including the unbalanced production of alpha-globin, which leads to oxidative stress and membrane damage in red blood cells. Ineffective erythropoiesis is tightly linked to iron metabolism dysregulation, and new players in this pathway have emerged, paving the way for potential therapeutic options beyond the current standard of care.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Hematology
Yuanliang Peng, Long Liang, Haihang Zhang, Hong Liu, Guanxiong Zhang, Shuming Sun, Xianfeng Guo, Yanpeng Wang, Bin Hu, Rui Liu, Yanan Li, Ling Nie, Ji Zhang, Mao Ye, Yelena Z. Ginzburg, Zhong Lin, Biao Yin, Huiyong Chen, Jing Liu
Summary: In this study, single-cell RNA sequencing was used to investigate ineffective erythropoiesis (IE) in Th3/+ beta-thalassaemic mice. The results revealed the expansion of the erythroid group and the upregulation of genes involved in iron metabolism, haeme synthesis, protein folding, and heat response. A unique cell population named ThReticulocytes, characterized by high Hsp70 expression and dysregulation of iron metabolism and haeme synthesis signaling, was identified near reticulocytes. Treatment with the haeme oxygenase inhibitor tin-mesoporphyrin effectively improved the iron disorder and IE in beta-thalassaemic mice by suppressing the ThReticulocyte population and Hsp70 expression. This study provides detailed insights into the pathogenesis of IE and suggests potential therapeutic targets for thalassaemia.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Review
Medicine, General & Internal
Eihab A. Subahi, Fateen Ata, Hassan Choudry, Phool Iqbal, Mousa A. AlHiyari, Ashraf T. Soliman, Vincenzo De Sanctis, Mohamed A. Yassin
Summary: This article is a systematic review of the occurrence of extramedullary haematopoiesis (EMH) in patients with beta-thalassaemia major (BTM). The results show that EMH is rare in BTM patients and can occur in any organ system with varied clinical features. Magnetic resonance imaging (MRI) is an effective diagnostic modality for EMH, and conservative management has similar outcomes compared to invasive treatments. Larger studies focusing on outcomes are needed to improve guidelines for managing EMH in BTM.
ANNALS OF MEDICINE
(2022)
Article
Public, Environmental & Occupational Health
Sally MacVinish, Crystal van Leeuwen, Maartje Hoetjes, Yoshihiro Aoki, Deirdre Foley, Harriet Roggeveen
Summary: MSF provided comprehensive thalassaemia care programmes in Northeast Syria, including blood transfusion, iron chelation therapy, and psychosocial support, despite the challenging conflict setting.
CONFLICT AND HEALTH
(2023)
Article
Hematology
Ali Amid, Nick Barrowman, Isaac Odame, Melanie Kirby-Allen
Summary: Due to the unique pathophysiology of haemoglobin Bart's hydrops fetalis (HBHF), a different transfusion strategy is required for chronically transfused HBHF patients. This study found that a more aggressive transfusion targeting functional haemoglobin (f-Hb) can improve patient outcomes. Specific thresholds for pre-transfusion f-Hb were identified to achieve normal levels of soluble transferrin receptor and lactate dehydrogenase.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Anesthesiology
Leonardo B. Cavalli, Bronwyn L. Pearse, Alison Craswell, Christopher M. Anstey, Rishendran Naidoo, Ivan L. Rapchuk, Joanne Perel, Kylie Hobson, Mingzhong Wang, Yoke -Lin Fung
Summary: Anaemic cardiac surgery patients are at a higher risk of intraoperative blood transfusion. This study questions the appropriateness of using World Health Organization anaemia thresholds as preoperative optimization targets for cardiac surgery patients. Through retrospective cohort analysis and logistic regression, this study determined the preoperative haemoglobin concentrations that reduce the probability of intraoperative transfusion for cardiac surgery patients.
BRITISH JOURNAL OF ANAESTHESIA
(2023)
Article
Pediatrics
Ruwangi Dissanayake, Nayana Samarasinghe, Samantha Waidyanatha, Sajeewani Pathirana, Nilaksha Neththikumara, Vajira H. W. Dissanayake, Kalum Wetthasinghe, Lallindra Gooneratne, Pujitha Wickramasinghe
Summary: This study aimed to determine the magnitude of cardiac and hepatic iron overload in TDT patients in Sri Lanka, as well as whether certain gene pathogenic variants increase the risk of IO. The results showed that IO was common in the heart and liver, but there was no significant correlation between pathogenic variants and IO risk.
Article
Hematology
Padmapani Padeniya, Dileepa Ediriweera, Arjuna P. De Silva, Madunil Niriella, Anuja Premawardhena
Summary: Non-alcoholic fatty liver disease (NAFLD) is a global health problem. This study aimed to evaluate the effects of iron overload and NAFLD on liver damage in patients with transfusion-dependent thalassaemia (TDT). The results showed that significant steatosis (S1) in TDT patients was associated with higher BMI and liver fibrosis scores, increasing the risk of liver fibrosis.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Public, Environmental & Occupational Health
Anuja P. Premawardhena, Dileepa Senajith Ediriweera, Amir Sabouhanian, Angela Allen, David Rees, Shanthimala de Silva, Windsor Perera, Nimal Katugaha, Mahinda Arambepola, Robert C. Yamashita, Sachith Mettananda, Nilam Jiffry, Vikita Mehta, Refai Cader, Dayananda Bandara, Timothy St Pierre, Giulia Muraca, Christopher Fisher, Abirami Kirubarajan, Shawn Khan, Stephen Allen, Sanath P. Lamabadusuriya, David J. Weatherall, Nancy F. Olivieri
Summary: The study conducted long-term observations on the survival and complications of patients with haemoglobin E thalassaemia, finding that male patients, those with a history of serious infections, and patients with higher estimated body iron burdens had poorer survival rates.
LANCET GLOBAL HEALTH
(2022)
Article
Hematology
Luke K. L. Chan, Vivien W. M. Mak, Stanley C. H. Chan, Ellen L. M. Yu, Nelson C. N. Chan, Kate F. S. Leung, Carmen K. M. Ng, Margaret H. L. Ng, Joyce C. W. Chan, Harold K. K. Lee
Summary: The study identified that around 31% of patients with HbH disease have moderate-to-severe liver iron overload, and about 20% have advanced liver fibrosis. There were positive correlations between liver stiffness measurement and age, serum ferritin levels, and liver iron concentration.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)