2021 Thalassaemia International Federation Guidelines for the Management of Transfusion-dependent Thalassemia

Abstract

Beta-thalassemia and particularly its transfusion-dependent form (TDT) is a demanding clinical condition, requiring life-long care and follow-up, ideally in specialized centers and by multidisciplinary teams of experts. Despite the significant progress in TDT diagnosis and treatment over the past decades that has dramatically improved patients' prognosis, its management remains challenging. On one hand, diagnostic and therapeutic advances are not equally applied to all patients across the world, particularly in several high-prevalence eastern regions. On the other, healthcare systems in low-prevalence western countries that have recently received large numbers of migrant thalassemia patients, were not ready to address patients' special needs. Thalassaemia International Federation (TIF), a global patient-driven umbrella federation with 232 member-associations in 62 countries, strives for equal access to quality care for all patients suffering from thalassemia or other hemoglobinopathies in every part of the world by promoting education, research, awareness, and advocacy. One of TIF's main actions is the development and dissemination of clinical practice guidelines for the management of these patients. In 2021, the fourth edition of TIF's guidelines for the management of TDT was published. The full text provides detailed information on the management of TDT patients and the clinical presentation, pathophysiology, diagnostic approach, and treatment of disease complications or other clinical entities that may occur in these patients, while also covering relevant psychosocial and organizational issues. The present document is a summary of the 2021 TIF guidelines for TDT that focuses mainly on clinical practice issues and recommendations.

Figure 1.

Phenotypic classification of thalassemia syndromes based on clinical severity and transfusion requirement.

Figure 2.

Summary of diagnostic methods for thalassemia and hemoglobinopathies. DCIP = dichlorophenolindophenol; Hb = hemoglobin; MLPA = multiplex ligation-dependent probe amplification. QTL = quantitative locus; PRC = polymerase chain reaction; RBC = red blood cells; RDB = reverse dot blot; TI = thalassemia intermedia; TM = thalassemia major.

Figure 3.

Basic algorithm for the cardiac evaluation of patients with thalassemia. BMI = body mass index.

Figure 4.

A basic therapeutic algorithm for thalassemia patients on regular blood transfusions. DFO = deferoxamine; DFP: deferiprone; Hb = hemoglobin concentration; HFrEF = heart failure with reduced left ventricular ejection fraction; MRA = mineralocorticoid receptor antagonists; RAASi = renin-angiotensin-aldosterone system inhibitors.