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.

Transfusion Complications in Thalassemia: Patient Knowledge and Perspectives. Patterson, S., Singleton, A., Branscomb, J., Nsonwu, V., & Spratling, R. Frontiers in medicine9, 772886. (2022)

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. 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)

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 Hematology101(1), 203-204. (2022)

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). Haematologica106(9), 2489. (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. Haematologica106(9), 2458. (2021)

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 hematology13(1), 85-94. (2020). 

Reducing the Iron Burden and Improving Survival in Transfusion-dependent Thalassemia Patients: Current Perspectives. Bayanzay, K. and Alzoebie, L. Journal of blood medicine. (2016)

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.  Pharmaceuticals15(6), 753. (2022)

Economic Evaluation of Betibeglogene Autotemcel (Beti-cel) Gene Addition Therapy in Transfusion-Dependent β-Thalassemia. Kansal, A. R., Reifsnider, O. S., Brand, S. B., Hawkins, N., et al. Journal of market access & health policy9(1), 1922028. (2021)

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)

Cure for Thalassemia Major – From Allogeneic Hematopoietic Stem Cell Transplantation to Gene Therapy. Srivastava A, Shaji RV. Haematologica. (2017)

Emergent treatments for β-thalassemia and orphan drug legislations. Costa, E., Cappellini, M. D., Rivella, S., Chilin, et al. Drug Discovery Today, 103342. (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)

Does Hepcidin Tuning Have a Role among Emerging Treatments for Thalassemia? Longo, F., & Piga, A. Journal of Clinical Medicine11(17), 5119. (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)

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 Medicine384(3), pp.252-260. (2021)

The Use of Luspatercept for Thalassemia in Adults. Cappellini, M.D. and Taher, A.T. Blood Advances5(1), pp.326-333. (2021)

Innovative Treatments for Rare Anemias. Cappellini, M. D., Marcon, A., Fattizzo, B., & Motta, I. HemaSphere5(6). (2021)

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)

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 Urology12(4), 209-227. (2022)

Frequency, Pattern, and Associations of Renal Iron Accumulation in Sickle/β-Thalassemia Patients. Meloni, A., Barbuto, L., Pistoia, L., et al. Annals of Hematology101(9), 1941-1950. (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)

Renal Function in β-Thalassemia Major Patients Treated with Two Different Iron-Chelation Regimes. Tanous, O., Azulay, Y., Halevy, R., et al. BMC nephrology22(1), 1-11. (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. Children8(2), 100. (2021)

Beta-thalassemia: Renal Complications and Mechanisms: A Narrative Review. Demosthenous C, Vlachaki E, Apostolou C, et al. Hematology. 24:1;426-438. (2019)

Pregnancy Outcomes Among Women Affected with Thalassemia Traits. Ruangvutilert, P., Phatihattakorn, C., Yaiyiam, C., & Panchalee, T. Archives of Gynecology and Obstetrics, 1-8. (2022)

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 Reports11(1), 1-8. (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 Health8. (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.  HemaSphere4(4), e446. (2020)

Biologic and Clinical Efficacy of LentiGlobin for Sickle Cell Disease. Kanter, J., Walters, M. C., Krishnamurti, L., et al. New England Journal of Medicine386(7), 617-628. (2022)

Precision Medicine and Sickle Cell Disease. El Hoss, S., El Nemer, W., & Rees, D. C. HemaSphere6(9). (2022)

Sickle Cell Disease Related Mortality in Brazil, 2000-2018. Santo, A. H. Transfusion and Cell Therapy44, 177-185. (2022)

The Oral Ferroportin Inhibitor Vamifeport Improves Hemodynamics in a Mouse Model of Sickle Cell Disease. Nyffenegger, N., Zennadi, R., Kalleda, N., et al. Blood, The Journal of the American Society of Hematology140(7), 769-781. (2022)

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. HemaSphere5(7), e604. (2021)

Research in Sickle Cell Disease: From Bedside to Bench to Bedside. Cisneros, G. S., & Thein, S. L. HemaSphere5(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. Cureus13(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 Hematologist18(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 Journal41(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 Parenting3(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)

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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