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.

Challenging the Erythropoiesis Paradigm in β-Thalassemia. Vinchi, F., & Vance, S. Z. HemaSphere4(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)

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)

Gene therapy for hemoglobinopathies. Cavazzana, M. and Mavilio, F. Human gene therapy (2018)

Cure for thalassemia major – from allogeneic hematopoietic stem cell transplantation to gene therapy. Srivastava A, Shaji RV. Haematologica. (2017)

Fair Pricing of Innovative Medicines: An EHA Position Paper. Hagenbeek, A., Gribben, J., Jäger, U., et al.  HemaSphere4(5), e488. (2020)

Access to affordable orphan medicines in Europe: An EHA position paper. Merlini, G., Gribben, J., Macintyre, E., Piggin, M., & Doeswijk, R. HemaSphere4(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)

Beta-thalassemia: renal complications and mechanisms: a narrative review. Demosthenous C, Vlachaki E, Apostolou C, et al. Hematology. 24:1;426-438. doi:10.1080/16078454.2019.1599096

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.  HemaSphere4(4), e446. (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 (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 Parenting3(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.

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)

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 diseases14(1). (2019).

New therapeutic options for the treatment of sickle cell disease. Matte  A., Zorzi F., Mazzi F., Federti E. et al. Mediterranean journal of hematology and infectious diseases11(1). (2019)

The carrier state for sickle cell disease is not completely harmless.  Xu, J.Z. and Thein, S.L.  Haematologica104(6). (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 haematology183(4). (2018)

Review of Medication Therapy for the Prevention of Sickle Cell Crisis. Riley, T.R., Boss, A., McClain, D. and Riley, T.T.Pharmacy and Therapeutics43(7). (2018)

Sickle cell screening in Europe: the time has come. Shook, L.M. and Ware, R.E. British journal of haematology183(4). (2018).

Sickle cell disease: an international survey of results of HLA-identical sibling hematopoietic stem cell transplantation. Gluckman E., Cappelli B., et al. Blood129(11). (2017).

How we manage iron overload in sickle cell patients. Coates T.D. and Wood J.C.  British journal of Haematology177(5). (2017).

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