Selected and regularly updated scholarly publications of original empirical and theoretical work on thalassaemia and sickle cell disease (SCD), presented in chronological order.
All
Nutrition
Pregnancy
Renal Complications
Non-Transfusion Dependent Thalassaemias
New Therapeutical Approaches
Gene Therapy and Gene Editing
Preimplantation Genetic Diagnosis
Hematopoietic Stem Cell Transplantation
Survival
Prevention
Endocrine system
Iron Chelation & Overload
Cardiac complications
Epidemiology
Liver
Sickle Cell Disease
Blood
Nurses
Multi-Parametric Cardiac Magnetic Resonance for Prediction of Heart Failure Death in Thalassemia Major
Meloni, A., Pistoia, L., Gamberini, M.R., Cuccia, L., Lisi, et al. (2023)
A Novel, Effective, and Efficient Strategy for Treating Sickle Cell Vaso-occlusive Events in the Infusion Center Setting
Reduction in Vaso-Occlusive Events Following Hematopoietic Stem Cell Transplantation in Patients with Sickle Cell Disease
Leonard, A., Furstenau, D., Abraham, A., Darbari, D., Tisdale, J.F. et al. Available at SSRN 4087447. (2023)
Longitudinal Study of ICET-A on Glucose Tolerance, Insulin Sensitivity and β-cell Secretion in Eleven β-Thalassemia Major Patients With Mild Iron Overload
De Sanctis V., Soliman A.T., Daar S., Tzoulis P., Di Maio S., Kattamis C. Acta Biomed. (2023)
Association of Sickle Cell Disease With Severe Maternal Morbidity
Ha, T. K., Boulet, S. L., Cotsonis, G., Geary, F., Jamieson, D. J., & Lindsay, M. Obstetrics & Gynecology, 141(1), 163-169. (2023)
Juggling Between the Cost and Value of New Therapies: Does Science Still Serve Patient Needs?
Eleftheriou, A., Angastiniotis, M., Farmakis, D., Englezos, P., Tuli, S. et al. Biomedical Journal of Scientific & Technical Research, 41(1), 3235-32351. (2023)
Overall and Complication‐free Survival in a Large Cohort of Patients With β‐Thalassemia Major Followed Over 50 Years
Forni, G.L., Gianesin, B., Musallam, K.M., Longo, F., Rosso, R., Lisi, R., et al. American Journal of Hematology. (2023)
Emergent Treatments for β-Thalassemia and Orphan Drug Legislations
Costa, E., Cappellini, M. D., Rivella, S., Chilin, et al. Drug Discovery Today, 103342. (2022)
Renal Dysfunction in Pediatric Patients in Iraq With β-Thalassemia Major and Intermedia
Mohammad G. S., Meaad K. H., Hamid J., Lamia M. Cureus. (2022)
Precision Medicine and Sickle Cell Disease
El Hoss, S., El Nemer, W., & Rees, D. C. HemaSphere, 6(9). (2022)
Does Hepcidin Tuning Have a Role Among Emerging Treatments for Thalassemia?
Longo, F., & Piga, A. Journal of Clinical Medicine, 11(17), 5119. (2022)
In Vivo Base Editing by a Single Intravenous Vector Injection for Treatment of Hemoglobinopathies
Li, C., Georgakopoulou, A., Newby, et al. JCI insight. (2022)
Luspatercept for the Treatment of Anaemia in Non-Transfusion-Dependent β-Thalassaemia (BEYOND): A Phase 2, Randomised, Double-blind, Multicentre, Placebo-controlled Trial
Taher, A. T., Cappellini, M. D., Kattamis, A., et al. The Lancet Haematology. (2022)
Luspatercept for the Treatment of Anaemia in Non-Transfusion-Dependent β-Thalassaemia (BEYOND): A Phase 2, Randomised, Double-blind, Multicentre, Placebo-controlled Trial
Taher, A. T., Cappellini, M. D., Kattamis, A., et al. The Lancet Haematology. (2022)
Nutritional Status in a Sample of Patients With β-Thalassemia Major
Lidoriki, I., Stavrou, G., Schizas, et al. Cureus14(8). (2022)
Safety and Efficacy of Mitapivat, an Oral Pyruvate Kinase Activator, in Adults with Non-Transfusion Dependent α-Thalassaemia or β-Thalassaemia: An Open-label, Multicentre, Phase 2 Study
Kuo, K. H., Layton, D. M., Lal, A., et al. The Lancet, 400(10351), 493-501. (2022)
New Entity—Thalassemic Endocrine Disease: Major Beta-Thalassemia and Endocrine Involvement
Carsote, M., Vasiliu, C., Trandafir, A. I., Albu, S. E., et al. Diagnostics, 12(8), 1921. (2022)
Frequency, Pattern, and Associations of Renal Iron Accumulation in Sickle/β-Thalassemia Patients
Meloni, A., Barbuto, L., Pistoia, L., et al. Annals of Hematology, 101(9), 1941-1950. (2022)
Pharmacological Induction of Fetal Hemoglobin in β-Thalassemia and Sickle Cell Disease: An Updated Perspective
Bou-Fakhredin, R., De Franceschi, L., Motta, I., Cappellini, M. D., & Taher, A. T. Pharmaceuticals, 15(6), 753. (2022)
Promoting Adherence to Iron Chelation Treatment in Beta-Thalassemia Patients
Eziefula, C., Shah, F. T., & Anie, K. A. Patient preference and adherence, 16, p.1423. (2022).
Sickle Cell Disease Related Mortality in Brazil, 2000-2018
Santo, A. H. Transfusion and Cell Therapy, 44, 177-185. (2022)
l-glutamine, crizanlizumab, voxelotor, and cell-based therapy for adult sickle cell disease: Hype or hope?
Leibovitch, J. N., Tambe, A. V., Cimpeanu, E., Poplawska, M., Jafri, F., Dutta, D., & Lim, S. H. Blood Reviews, 100925. (2022).
Kidney Stones in Transfusion-Dependent Thalassemia: Prevalence and Risk Factors
Sayani, F. A., Lal, A., Tasian, G. E., Al Mukaddam, M., Killilea, D. W., & Fung, E. B. Open Journal of Urology, 12(4), 209-227. (2022)
Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries
Halim-Fikri, B. H., Lederer, C. W., Baig, A. A., et al. .Journal of personalized medicine, 12(4), 552. (2022)
Pregnancy Outcomes Among Women Affected with Thalassemia Traits
Ruangvutilert, P., Phatihattakorn, C., Yaiyiam, C., & Panchalee, T. Archives of Gynecology and Obstetrics, 1-8. (2022)
Early Detection of Iron Overload Cardiomyopathy in Transfusion Dependent Thalassemia Patients in Sulaimaniyah City, Iraq
Ahmed, R. A., Salih, A. F., Omer, S. H., et al. Therapeutics and Clinical Risk Management, 18, 259. (2022)
Transfusion Complications in Thalassemia: Patient Knowledge and Perspectives
Patterson, S., Singleton, A., Branscomb, J., Nsonwu, V., & Spratling, R. Frontiers in medicine, 9, 772886. (2022)
Biologic and Clinical Efficacy of LentiGlobin for Sickle Cell Disease
Kanter, J., Walters, M. C., Krishnamurti, L., et al. New England Journal of Medicine, 386(7), 617-628. (2022)
Iron Overload Status in Patients with Non-Transfusion-Dependent Thalassemia in China
Huang, Y., Yang, G., Wang, M., Wei, et al. Therapeutic Advances in Hematology, 13, 20406207221084639. (2022)
Nutrition in Thalassemia: A Systematic Review of Deficiency, Relations to Morbidity, and Supplementation Recommendations
Goldberg, E. K., Lal, A., & Fung, E. B. Journal of Pediatric Hematology/Oncology, 44(1), 1-11. (2022)
Morbidity-free Survival and Hemoglobin Level in Non-Transfusion-Dependent β-Thalassemia: A 10-Year Cohort Study
Musallam, K. M., Cappellini, M. D., Daar, S., & Taher, A. T. Annals of Hematology, 101(1), 203-204. (2022)
Atrial Fibrillation in β-Thalassemia: Overview of Mechanism, Significance and Clinical Management
Guidelines for the Monitoring and Management of Iron Overload in Patients with Haemoglobinopathies and Rare Anaemias
Shah, F..T., Porter, J. B., Kaya, B. et al. British Journal of Haematology, 196, 336–350. (2022)
The Influence of Cardiovascular Risk Factors and Hypogonadism on Cardiac Outcomes in an Aging Population of Beta-Thalassemia Patients
Barbero, U., Ajassa, M., Gaglioti, C. M., Piga, A., et al. Journal of cardiovascular development and disease, 9(1), 3. (2021)
Hepatocellular Carcinoma in Transfusion Dependent Thalassemia Patients: A Review from a Clinical Perspective
Papadopoulos, N., & Koskinas, J. Hepatoma Research, 7, 77. (2021)
Evaluation of Stillbirth Among Pregnant People With Sickle Cell Trait
Canelón SP, Butts S, Boland MR. JAMA Netw Open. (2021)
Phylogenetic Analysis in the Clinical Risk Management of an Outbreak of Hepatitis C Virus Infection Among Transfused Thalassaemia Patients in Italy
Mazzucco, W., di Maio, V. C., Bronte, F., Fabeni, L., et al. Journal of Hospital Infection, 115, 51-58. (2021)
Renal Function in β-Thalassemia Major Patients Treated with Two Different Iron-Chelation Regimes
Tanous, O., Azulay, Y., Halevy, R., et al. BMC nephrology, 22(1), 1-11. (2021)
Prenatal Diagnosis Leads to Early Diagnosis of Transfusion-Dependent Thalassemia and Better Growth Outcomes
Asawasudsakorn, N., Lauhasurayotin, S., Poparn, H., et al. Global Pediatric Health, 8. (2021)
Glucose Metabolism and Insulin Response to Oral Glucose Tolerance Test (OGTT) in Prepubertal Patients with Transfusion-dependent β-Thalassemia (TDT): A Long-term Retrospective Analysis
De Sanctis, V., Soliman, A. T., Tzoulis, P., Daar, S., Di Maio, et al. Mediterranean Journal of Hematology and Infectious Diseases, 13(1). (2021)
Effect of HBB genotype on survival in a cohort of transfusion-dependent thalassemia patients in Cyprus
Kountouris, P., Michailidou, K., Christou, S., Hadjigavriel, et al. Haematologica, 106(9), 2458. (2021)
The Transfusion Management of Beta-Thalassemia in the United States
Lal, A., Wong, T., Keel, S., Pagano, M., Chung, J., et al. Transfusion. (2021)
Pregnancy Outcomes in Women Affected by Fetal Alpha-Thalassemia: A Case Control Study
Li, J., Yan, J., Huang, Y., Wei, J., Xie, B., Zhu, M., & Jiang, W. Scientific Reports, 11(1), 1-8. (2021)
How to Facilitate Decision-Making for Hematopoietic Stem Cell Transplantation in Patients With Hemoglobinopathies. The Perspectives of Healthcare Professionals
Mekelenkamp, H., Zanten, H. V., Vries, M. D., Lankester, A., & Smiers, F. Frontiers in Pediatrics, 9, 690309. (2021)
The European Medicines Agency Review of Crizanlizumab for the Prevention of Recurrent Vaso-Occlusive Crises in Patients With Sickle Cell Disease
Delgado, J., Voltz, C., Stain, M., Lapveteläinen, T., et al. HemaSphere, 5(7), e604. (2021)
Economic Evaluation of Betibeglogene Autotemcel (Beti-cel) Gene Addition Therapy in Transfusion-Dependent β-Thalassemiaon of Fetal Hemoglobin in β-Thalassemia and Sickle Cell Disease: An Updated Perspective
Kansal, A. R., Reifsnider, O. S., Brand, S. B., Hawkins, N., et al. Journal of market access & health policy, 9(1), 1922028. (2021)
Research in Sickle Cell Disease: From Bedside to Bench to Bedside
Cisneros, G. S., & Thein, S. L. HemaSphere, 5(6). (2021)
Innovative Treatments for Rare Anemias
Cappellini, M. D., Marcon, A., Fattizzo, B., & Motta, I. HemaSphere, 5(6). (2021)
Survival and Causes of Death in 2,033 Patients with Non-Transfusion-Dependent β-Thalassemia
Musallam, K.M., Vitrano, A., Meloni, A., Pollina, S.A., Karimi, M., El-Beshlawy A. et al. Haematologica. 106(9), p.2489. (2021)
Survival and Causes of Death in 2,033 Patients with Non-Transfusion-Dependent β-Thalassemia
Musallam, K. M., Vitrano, A., Meloni, A., et al. (2021). Haematologica, 106(9), 2489. (2021)
Setting up and sustaining blood and marrow transplant services for children in middle-income economies: an experience-driven position paper on behalf of the EBMT PDWP
Faulkner, L., Verna, M., Corbacioglu, S., et al. .Bone Marrow Transplantation, 56(3), 536-543. (2021)
Hydroxyurea Use Among Children With Sickle Cell Disease at King Abdulaziz University Hospital in Jeddah City
Alzahrani, F., Albaz, G. F., AlSinan, F., et al. Cureus, 13(2). (2021)
Assessment of Subclinical Renal Glomerular and Tubular Dysfunction in Children with Beta Thalassemia Major
Mahmoud, A. A., Elian, D. M., Abd El Hady, N. M., et al. Children, 8(2), 100. (2021)
CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia
Frangoul, H., Altshuler, D., Cappellini, M.D., Chen, Y.S., et al. New England Journal of Medicine, 384(3), pp.252-260. (2021)
Hemoglobin disorders in Europe: A Systematic Effort of Identifying and Addressing Unmet Needs and Challenges by the Thalassaemia International Federation
Angastiniotis, M., Brunetta, A. L., Constantinou, G., Knoll, E. et al. Thalassemia Reports, 11(1). (2021)
The Use of Luspatercept for Thalassemia in Adults
Cappellini, M.D. and Taher, A.T. Blood Advances, 5(1), pp.326-333. (2021)
The Prevention of Thalassemia Revisited: A Historical and Ethical Perspective by the Thalassemia International Federation
Angastiniotis, M., Petrou, M., Loukopoulos, D., Modell, B., Farmakis, D., Englezos, P. and Eleftheriou, A. Hemoglobin (2021)
Nutrition in Thalassemia: A Systematic Review of Deficiency, Relations to Morbidity, and Supplementation Recommendations
Goldberg, E. K., Lal, A., & Fung, E. B. Journal of Pediatric Hematology/Oncology, 44(1), 1-11. (2022)
Fair Pricing of Innovative Medicines: An EHA Position Paper
Hagenbeek, A., Gribben, J., Jäger, U., et al. HemaSphere, 4(5), e488. (2020)
Gene Therapy of the Hemoglobinopathies
Kunz, Joachim B.; Kulozik, Andreas E. HemaSphere. doi: 10.1097/HS9.0000000000000479 (2020)
Challenging the Erythropoiesis Paradigm in β-Thalassemia
Vinchi, F., & Vance, S. Z. HemaSphere, 4(5). (2020)
Effects of A-Tocopherol on Hemolysis and Oxidative Stress Markers on Red Blood Cells in β-Thalassemia Major
Sovira N, Lubis M, Wahidiyat PA, Suyatna FD, et al. Clin Exp Pediatr. Aug;63(8):314-320. (2020)
Recommendations for Pregnancy in Rare Inherited Anemias
Taher, A. T., Iolascon, A., Matar, C. F., Bou-Fakhredin, R., de Franceschi, L., Cappellini, M. D., et al. HemaSphere, 4(4), e446. (2020)
Update in Laboratory Diagnosis of Thalassemia
Munkongdee T, Chen P, Winichagoon P, Fucharoen S, Paiboonsukwong K. Front Mol Biosci. 10.3389/fmolb.2020.00074. PMID: 32671092; PMCID: PMC7326097. (2020)
The Changing Epidemiology of the Ageing Thalassaemia Populations: A Position Statement of the Thalassaemia International Federation
Angastiniotis, M., Eleftheriou, A., Farmakis, D. et al. European Journal of Hematology. (2020)
Sickle Cell Pain Crisis: Clinical Guidelines for the Use of Oxygen
Omoigui, S. Practical Pain Management. (2020)
Editing a γ-Globin Repressor Binding Site Restores Fetal Hemoglobin Synthesis and Corrects the Phenotype of Sickle Cell Disease Erythrocytes
Weber, L., Frati, G., Felix, T., Wollenschlaeger, C., Casini, A., Meneghini, V., et al. Science Journals. (2020)
Management of Age-associated Medical Complications in Patients with β-Thalassemia
Motta, I., Mancarella, M., Marcon, A., Vicenzi, M., & Cappellini, M. D. Expert review of hematology, 13(1), 85-94. (2020).
Challenges of Blood Transfusions in β-Thalassemia
Shah, F. T., Sayani, F., Trompeter, S., Drasar, E., & Piga, A. Blood reviews, 100588. (2019)
Understanding the Complications of Sickle Cell Disease
Tanabe P., et al. AJN The American Journal of Nursing 119.6: 26-35. (2019)
Innovative Curative Treatment of Beta-Thalassemia: Cost-efficacy Analysis of Gene Therapy Versus Allogenic Hematopoietic Stem Cell Transplantation
Coquerelle, S., Ghardallou et al. Human gene therapy. (2019)
Reduction of Cardiac Outcomes in Thalassemia Major Thanks to a Ten-year National Italian Networking
Meloni A., Pistoia L. et al. EHA learning centre June 14. (2019)
Current Challenges in the Management of Patients with Sickle Cell Disease: A Report of the Italian Experience
Russo G., De Franceschi L., Colombatti, et al. Orphanet journal of rare diseases, 14(1). (2019)
Need for a Universal Thalassemia Screening Programme in India? A public health perspective
Thiyagarajan A., Bhattacharya S., Sharma N., Srivastava A., Dhar DK. J Family Med Prim Care. (2019)
The Carrier State for Sickle Cell Disease Is Not Completely Harmless
Xu, J.Z. and Thein, S.L. Haematologica, 104(6). (2019)
Beta Thalassemia: Monitoring and New Treatment Approaches
Khandros, E., and Janet L. K. Hematology/Oncology Clinics 33, no. 3 (2019): 339-353. (2019)
Intrabone Hematopoietic Stem Cell Gene Therapy for Adult and Pediatric Patients Affected by Transfusion-dependent ß-Thalassemia
Ferrari G., Marktel S. et al. Nature Medicine. (2019)
Risk Factors for Mortality in Adult Patients with Sickle Cell Disease: A Meta-analysis of Studies in North America and Europe.
Maitra P., Caughey M., Robinson L. et al. Haematologica. (2019)
Iron Metabolism Under Conditions of Ineffective Erythropoiesis in β-Thalassemia
Rivella S., Blood. (2019)
Hepatocellular Carcinoma in β-Thalassemia Patients: Review of the Literature with Molecular Insight into Liver Carcinogenesis
Finianos A, Matar CF, Taher A. International Journal of Molecular Sciences. (2018)
Evaluation of Endocrine Complications in Beta-Thalassemia Intermedia Patients: A Cross Sectional Multi-Center Study
Karimi, M., Zarei, et al. Blood. 132 (Supplement 1). (2018)
Nutritional Deficiencies Are Common in Patients with Transfusion-dependent Thalassemia and Associated with Iron Overload
Goldberg, E. K., Neogi, S., Lal, A., Higa, A., & Fung, E. Journal of food and nutrition research (Newark, Del.), 6(10), 674. (2018)
Amustaline-glutathione Pathogen-reduced Red Blood Cell Concentrates for Transfusion-dependent Thalassaemia
Aydinok Y, Piga A et al. British Journal of Haematology. (2019)
An ICET-A Survey on Occult and Emerging Endocrine Complications in Patients with β-Thalassemia Major: Conclusions and Recommendations
De Sanctis Vincenzo, T., Duran, C., Ploutarchos, et al. Acta bio-medica: Atenei Parmensis. (2018)
Iron Chelators or Therapeutic Modulators of Iron Overload: Are We Anywhere Near Ideal One?
Kanjaksha Ghosh, Kinjalka Ghosh. Indian Journal of Medical Research. (2018)
Estimating the Birth Prevalence and Pregnancy Outcomes of Congenital Malformations Worldwide
Moorthie, S. et al. Journal of Community Genetics. (2018)
Transient Elastography (TE) is a Useful Tool for Assessing the Response of Liver Iron Chelation in Sickle Cell Disease Patients
Sophia Delicou, Konstantinos Maragkos et al. Mediterranean Journal of Hematology and Infectious Diseases. (2018)
Rare Single Gene Disorders: Estimating Baseline Prevalence and Outcomes Worldwide
Blencowe, H. et al. Journal of Community Genetics. (2018)
Prenatal and Preimplantation Diagnosis of Hemoglobinopathies
Vrettou, C., Kakourou, G., Mamas, T. and Traeger‐Synodinos. J.International journal of laboratory hematology, 40. (2018)
Pre-implantation Genetic Diagnosis
Traeger-Synodinos, J. Best Practice & Research Clinical Obstetrics & Gynaecology, 39. (2017)
Cure For Thalassemia Major – From Allogeneic Hematopoietic Stem Cell Transplantation To Gene Therapy
Srivastava, A. and Shaji, R.V. Haematologica, 102(2). (2017)
Preconception Carrier Screening and Prenatal Diagnosis in Thalassemia and Hemoglobinopathies: Challenges and Future Perspectives
Traeger-Synodinos, J. and Harteveld. Expert review of molecular diagnostics, 17(3). (2017)
Modeling the Complex Activity of Sickle Cell and Thalassemia Specialist Nurses in England
Leary, A. and Anionwu, E.N. Clinical Nurse Specialist. (2014)
A Guide for the Haemoglobinopathy Nurse
Aimiuwu E, Thomas A, Roheemun N, Khairallah T, Nacouzi A N, Georgiou A, Papadopoulou C (2013)
