Scientific Literature

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)

Rare Single Gene Disorders: Estimating Baseline Prevalence and Outcomes Worldwide. Blencowe, H. et al. Journal of Community Genetics. (2018)

Estimating the Birth Prevalence and Pregnancy Outcomes of Congenital Malformations Worldwide. Moorthie, S. et al. Journal of Community Genetics. (2018)

An Overview of Concepts and Approaches Used in Estimating the Burden of Congenital Disorders Globally. Moorthie, S. et al. London School of Hygiene & Tropical Medicine. (2017)

Non-transfusion-dependent Thalassemia and Thalassemia Intermedia: Epidemiology, Complications, and Management. Vichinsky, E. Current medical research and opinion, 32(1) (2016)

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)

Iron Metabolism Under Conditions of Ineffective Erythropoiesis in β-Thalassemia, Rivella S., Blood. (2019)

Iron Chelators or Therapeutic Modulators of Iron Overload: Are We Anywhere Near Ideal One?, Kanjaksha Ghosh, Kinjalka Ghosh. Indian Journal of Medical Research. (2018)

Iron Overload in Thalassemia: Different Organs at Different Rates, Taher AT, Saliba AN. Hematology Am Soc Hematol Educ Program. (2017)

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)

How Early Can Myocardial Iron Overload Occur in Beta Thalassemia Major? Yang G, Liu R, Peng P, Long L, Zhang X, et al.  PLoS One 9. (2014)

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)

Evaluation of Endocrine Complications in Beta-Thalassemia Intermedia Patients: A Cross Sectional Multi-Center Study. Karimi, M., Zarei, et al. (2018)

TIF’s Position Paper on Viral Hepatitis C in Thalassaemia

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)

Treatment of Chronic Hepatitis C with Direct-acting Antivirals in Patients with b-Thalassaemia Major and Advanced Liver Disease. Sinakos E, Kountouras D et al. British Journal of Haematology. (2017)

Minerals in Thalassaemia MajorPpatients: An Overview. Ozturk, Z., Genc, G.E. and Gumuslu, S. Journal of Trace Elements in Medicine and Biology. (2017)

The Importance of Nutrition for Health in Patients with Transfusion‐dependent Thalassemia. Fung, E.B. Annals of the New York Academy of Sciences, 1368(1). (2016)

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. TIF’s Publication. (2013)

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). 

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

Cure For Thalassemia Major – From Allogeneic Hematopoietic Stem Cell Transplantation To Gene Therapy. Srivastava, A. and Shaji, R.V. Haematologica, 102(2). (2017)

Allogeneic Stem Cell Transplantation for Thalassemia Major. Mathews V.  Regenerative Medicine: Laboratory to Clinic (pp. 343-357). Springer, Singapore. (2017)

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)

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)

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 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)

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)

Revisiting Beta Thalassemia Intermedia: Past, Present, and Future Prospects. Ben Salah N, Bou-Fakhredin R, Mellouli F, Taher AT. Hematology Journal. (2017)

Guidelines for the Clinical Management of Non-Transfusion Dependent Thalassaemias, 2nd edition. Cappellini M D, Taher A, Musallam K. et al. TIF Publication. (2017)

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) 

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)

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)

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 diseases, 14(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 diseases, 11(1). (2019)

The Carrier State for Sickle Cell Disease Is Not Completely Harmless.  Xu, J.Z. and Thein, S.L.  Haematologica, 104(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 haematology, 183(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 Therapeutics, 43(7). (2018)

Sickle Cell Screening in Europe: the time has come. Shook, L.M. and Ware, R.E. British journal of haematology, 183(4). (2018)

Sickle Cell Disease: An International Survey of Results of HLA-identical Sibling Hematopoietic Stem Cell Transplantation. Gluckman E., Cappelli B., et al. Blood, 129(11). (2017)

How We Manage Iron Overload in Sickle Cell Patients. Coates T.D. and Wood J.C.  British journal of Haematology, 177(5). (2017)