Scientific Literature

Selected and regularly updated scholarly publications of original empirical and theoretical work on thalassaemia and sickle cell disease (SCD), divided according to subject.
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 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)
The Impact of Migration on the Health Services for Rare Diseases in Europe: The example of Haemoglobin Disorders. TIF’s publication. (2013)
The Transfusion Management of Beta-Thalassemia in the United States. Lal, A., Wong, T., Keel, S., Pagano, M., Chung, J., et al. Transfusion. (2021)
Challenging the Erythropoiesis Paradigm in β-Thalassemia. Vinchi, F., & Vance, S. Z. HemaSphere, 4(5). (2020)
Challenges of Blood Transfusions in β-Thalassemia. Shah, F. T., Sayani, F., Trompeter, S., Drasar, E., & Piga, A. Blood reviews, 100588. (2019)
Amustaline-glutathione Pathogen-reduced Red Blood Cell Concentrates for Transfusion-dependent Thalassaemia. Aydinok Y, Piga A et al. British Journal of Haematology. (2019)
Red Cell Transfusion in Paediatric Patients with Thalassaemia and Sickle Cell Disease: Current Status, Challenges and Perspectives. Tzounakas V, Valsami S et al. Transfusion and Apheresis Science Journal. (2018)
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)
Heart Failure in Haemoglobinopathies: Pathophysiology, Clinical Phenotypes, and Management. Farmakis D et al. European Journal of Heart Failure. (2017)
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).
Gene Therapy of the Hemoglobinopathies. Kunz, Joachim B.; Kulozik, Andreas E. HemaSphere. doi: 10.1097/HS9.0000000000000479 (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. (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)
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)
Gene Therapy for Hemoglobinopathies. Cavazzana, M. and Mavilio, F. Human gene therapy (2018)
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)
The Use of Luspatercept for Thalassemia in Adults. Cappellini, M.D. and Taher, A.T. Blood Advances, 5(1), pp.326-333. (2021)
Innovative Treatments for Rare Anemias. Cappellini, M. D., Marcon, A., Fattizzo, B., & Motta, I. HemaSphere, 5(6). (2021)
Fair Pricing of Innovative Medicines: An EHA Position Paper. Hagenbeek, A., Gribben, J., Jäger, U., et al. HemaSphere, 4(5), e488. (2020)
Access to Affordable Orphan Medicines in Europe: An EHA Position Paper. Merlini, G., Gribben, J., Macintyre, E., Piggin, M., & Doeswijk, R. HemaSphere, 4(5), e477. (2020)
Beta Thalassemia: New Therapeutic Options Beyond Transfusion and Iron Chelation. Motta I, Bou-Fakhredin R, Taher AT, Cappellini MD. Drugs.Jul;80(11):1053-63. (2020)
Beta Thalassemia: Monitoring and New Treatment Approaches. Khandros, E., and Janet L. K. Hematology/Oncology Clinics 33, no. 3 (2019): 339-353. (2019)
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)
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)
Informed Choice in a Multicultural World. M. Petrou. Thalassemia Reports. (2018)
The Prevention of Thalassemia. Cao A., Kan Y.W. CSH Perpectives in Medicine. (2013)
Beta-thalassemia: Renal Complications and Mechanisms: A Narrative Review. Demosthenous C, Vlachaki E, Apostolou C, et al. Hematology. 24:1;426-438. (2019)
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)
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)
Evaluation of Stillbirth Among Pregnant People With Sickle Cell Trait. Canelón SP, Butts S, Boland MR. JAMA Netw Open. (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)
Research in Sickle Cell Disease: From Bedside to Bench to Bedside. Cisneros, G. S., & Thein, S. L. HemaSphere, 5(6). (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)
Commonly Used Agent for Acute Pain Management of Sickle Cell Anemia in Saudi Emergency Department: A Narrative Review. Hejazi, R. A., Mandourah, N. A., Alsulami, A. S., et al. Saudi Pharmaceutical Journal. (2021)
You Are What You Don’t Eat: Micro-and Macronutrient Deficiencies Linked to Worse Outcomes in Sickle Cell Disease. Osunkwo, I.I., The Hematologist, 18(3). (2021)
The Relation Between Regular Outpatient Follow-up and Frequency of Emergency Department Visits in Sickle Cell Pediatric Patients. Ismail, A. F., Tarawah, R. A., Azzouni, Z. Y.,et al. Saudi Medical Journal, 41(12), 1324. (2020)
Cumulative Outcome of Pre‐implantation Genetic Diagnosis for Sickle Cell Disease: A 5‐year Review. Vali, S., Mukhtar, S., et al. British Journal of Haematology. (2020)
Sickle Cell Pain Crisis: Clinical Guidelines for the Use of Oxygen. Omoigui, S. Practical Pain Management. (2020)
Mental Stress Causes Vasoconstriction in Subjects with Sickle Cell Disease and in Normal Controls. Shah P., Khaleel M. et al. Haematologica 105.1: 83-90. (2020)
Sickle Cell Trait. D. Ashorobi, R. Bhatt. Treasure Island (FL): StatPearls Publishing. (2020)
Web-Based Technology to Improve Disease Knowledge Among Adolescents With Sickle Cell Disease: Pilot Study. Saulsberry A. C., Hodges J. R., Cole A., Porter J. S., & Hankins J. JMIR Pediatrics and Parenting, 3(1), e15093. (2020)
Understanding the Complications of Sickle Cell Disease. Tanabe P., et al. AJN The American Journal of Nursing 119.6: 26-35. (2019)