Thalassemia Major

Abstract

Thalassemia is the most common monogenic hematologic disease that affects millions in the world and kills thousands of patients every year. Without transfusion or transplantation, patients with thalassemia major are expected to die within months of diagnosis. However, long-term transfusion and chelation therapy is highly challenging for many developing countries where the disease is prevalent, representing a major and unsustainable health burden. Stem cell transplantation is the only cure for thalassemia. It has witnessed major developments that have made it less toxic, more successful, and feasible for a larger number of patients with diverse comorbidities and from a wider range of donors. Advances in human leukocyte antigen typing have greatly refined alternate donor selection with results of matched unrelated donors similar to matched sibling donors. Novel strategies such as haploidentical and cord blood transplantation have increased the possibility of patients with no healthy donor to get a better opportunity to survive and avoid chronic transfusion complications. Cost-effectively, transplantation should be considered the primary treatment of choice in the presence of a suitable related or unrelated donor and at centers with a satisfactory experience in the field of transplantation and particularly, in managing those with thalassemia. Despite some complications such as graft-versus-host disease and late conditioning effects, the overall improvement in the quality of life of thalassemia is difficult to deny. Unfortunately, the number of transplants for thalassemia represents only a minority of all transplants conducted globally and the essential requirement for transplants for thalassemia in limited-resources countries should mandate the transplant societies, including Worldwide Network for Blood and Marrow Transplantation, to collaborate to help initiate and support specialized transfusion and transplant programs for managing thalassemia.

Changing patterns in the epidemiology of β‐thalassemia

“…44,82,83 In an observational study of 539 patients with β-thalassemia in Cyprus, overall survival improved after the year 2000 84 ; updated analyses from this study demonstrate that survival to age 30 between 2000 and 2018 increased by 8 percentage points compared with the period of 1980 to 1999, and ICT with either deferiprone or deferasirox was an independent predictor of survival. 85 Increased use of hematopoietic stem cell transplantation 86 and cardiac iron monitoring with magnetic resonance imaging have also helped improve survival rates and reduce complications related to iron overload. 87 Although rates of survival and complication-free survival continue to improve as a result of better treatment options, new complications are also emerging in long-term survivors.…”

Access to health care for patients with thalassaemia in Greece: a cross-sectional study

“…Management of beta-thalassaemia major includes regular blood transfusions and iron chelation therapy to manage iron overload in the body (1,2). Allogeneic haematopoietic stem cell transplantation is the only definitive cure for transfusion-dependent young patients before the development of iron-related tissue damage (3).…”

Co-Transplantation of Haploidentical Stem Cells and a Dose of Unrelated Cord Blood in Pediatric Patients with Thalassemia Major

“…Allogeneic hematopoietic stem cell transplantation (HSCT) provides a potential cure for thalassemia major (TM) patients and it is a more cost-effective treatment than lifelong blood transfusion and chelation therapy [1][2][3] . Transplants from matched related or unrelated donors are the primary treatment choice for individuals with TM and other hemoglobinopathies 4 .…”