BioMed Research International

Non-Transfusion-Dependent Thalassemia: A Complex Mix of Genetic Entities Yet to Be Fully Discovered


Lead Editor

1Azienda Ospedaliera Di Rilievo Nazionale Antonio Cardarelli, Centro Microcitemie A, Mastrobuoni, Naples, Italy

2UOD Microcitemia AORN Cardarelli, Via A Cardarelli, 80131 Naples, Italy

3Azienda Ospedaliera Vincenzo Cervello, Palermo, Italy

4Thalassemia Research Center Institute of MolecularBiosciences Mahidol University, Salaya Campus 25/25 M. 3, Puttamonthon 4 Road,Puttamonthon, Nakornpathom, Thailand

Non-Transfusion-Dependent Thalassemia: A Complex Mix of Genetic Entities Yet to Be Fully Discovered


The management of patients with Nontransfusion Dependent Thalassaemia (NTDT) has been a challenging task; in fact, within this conventional definition, clinicians have to deal with a great variety of syndromes heterogeneous in terms of their molecular background, clinical course, and severity. Despite the availability of recent guideline from the Thalassaemia International Federation (, the validity of several treatments and the follow-up recommended strategies have to be confirmed; in fact, most of these recommendations arise from retrospective and cross-sectional studies in the absence of a genotype-phenotype relationship completely defined and elucidated and are difficult to transfer into the “wide-spectrum” of phenotypes in clinical practice, particularly in the case of patients first diagnosed in adult life. Thus, the key for a tailored treatment and follow up of each form of NTDT patients could be the identification of both markers of disease severity and risk factors that would help clinicians to correctly manage every patient with NTDT. In this setting, the critical decision to regularly transfuse NTDT patients to ameliorate or prevent morbidities is still controversial and not supported by clinical controlled trials. To this purpose, we invite authors to submit original research and review article that could help to better define not only risk factor and markers of disease severity but also the balance of the introduction of regular transfusion therapy in accurately defined population with NTDT. Potential topics include, but are not limited to:

  • The identification of genetic, biochemical, and clinical markers of NTDT severity and of peculiar clinical outcome
  • The retrospective analysis of the reasons that forced the selected group of patients with NTDT to become transfusion dependent
  • The definition of an ideal transfusion regimen in NTDT committed to regularly receive transfusions
  • The management of NTDT patients who need transfusions but cannot be treated with transfusions
  • The outcome associated to the introduction of regular transfusional therapy in patients with NTDT: iron balance and chelation, thrombotic risk, extramedullary hemopoiesis, osteoporosis, diabetes and other endocrine complications, allo- and autoimmunization, pulmonary hypertension, and quality of life

Before submission authors should carefully read over the journal’s Author Guidelines which are located at Prospective authors should submit an electronic copy of their complete manuscript through the journal Manuscript Tracking System at according to the following timetable:

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