Selected and regularly updated scholarly publications of original empirical and theoretical work on thalassaemia and sickle cell disease (SCD), divided according to subject.
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)
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)
The new era of chelation treatments: effectiveness and safety of 10 different regimens for controlling iron overloading in thalassaemia major. Di Maggio, R. and Maggio, A. British journal of haematology, 178(5). (2017)
Management of iron overload before, during, and after hematopoietic stem cell transplantation for thalassemia major. Angelucci, E. and Pilo, F. Annals of the New York Academy of Sciences, 1368(1). (2016)
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)
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)
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)
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)
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).
Hemopoietic stem cell transplantation in thalassemia: a report from the European Society for Blood and Bone Marrow Transplantation Hemoglobinopathy Registry, 2000–2010. Baronciani, D., Angelucci, et al. Bone marrow transplantation, 51(4). (2016)
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)
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 βeta-thalassemia: cost-efficacy analysis of gene therapy versus allogenic hematopoietic stem cell transplantation. Coquerelle, S., Ghardallou et al. Human gene therapy. (2019)
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)
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)
Research in Sickle Cell Disease: From Bedside to Bench to Bedside. Cisneros, G. S., & Thein, S. L. HemaSphere, 5(6). (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)
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 (2020): 83-90.
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 (2019): 26-35.
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).
Real-life experience with hydroxyurea in sickle cell disease: A multicenter study in a cohort of patients with heterogeneous descent. Rigano P., De Franceschi L., Piga A. et al. Blood Cells, Molecules, and Diseases. (2018)
Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference. Lobitz S., Telfer P., Angastiniotis M., et al. British journal of haematology, 183(4). (2018)