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)
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)
Preimplantation genetic diagnosis for hemoglobinopathies (2011)
Kuliev A, Pakhalchuk T, Verlinsky O, Rechitsky S.
Hemoglobinopathies are the most frequent indications for preimplantation genetic diagnosis (PGD), allowing couples at-risk of bearing offspring with thalassemia and sickle cell disease to reproduce without fear of having an affected child. The present experience includes PGD for sickle cell disease, α- and β-thalassemia (α- and β-thal). We present here the results of the world’s largest experience of over 395 PGD cycles for hemoglobin (Hb) disorders, resulting in the birth of 98 healthy, hemoglobinopathy-free children, with seven pregnancies still ongoing.
One-third of these cases were performed in combination with HLA typing, allowing the birth of unaffected children who were also HLA identical to the affected siblings with hemoglobinopathies in these families, with successful or pending stem cell transplantation in a dozen of them. The results show that PGD is presently a practical approach for prevention of hemoglobinopathies, gradually also becoming a useful approach to improving access to HLA-compatible stem cell transplantation for this group of diseases.
Hemoglobin. 2011;35(5-6):547-55. doi: 10.3109/03630269.2011.608457. Epub 2011 Sep 12
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)