Thalassemia Rounds – Save the Date
The Non-Transfusion-Dependent Thalassemias: An Enduring Challenge
Presenter: Ashutosh Lal, MD
Professor of Pediatrics, UCSF School of Medicine, Division of Hematology
Director, Comprehensive Thalassemia Program & The Iron Disorders Program, UCSF Benioff Children’s Hospital
Moderator: Farzana Sayani, MD, MSc
Assistant Professor of Medicine, Perelman School of Medicine, University of Pennsylvania
Director, Penn Comprehensive Adult Thalassemia Program
Director, Penn Comprehensive Sickle Cell Program, Hospital of the University of Pennsylvania
The non-transfusion-dependent thalassemias are a diverse group of disorders caused by mutations in the alpha or beta-globin genes that affect hemoglobin synthesis and lead to an anemia ranging from mild to severe. The unifying principle is that such individuals are clinically determined to not require regular red cell transfusions in contrast with transfusion-dependent thalassemia. While many are asymptomatic and never transfused, others need intermittent transfusions during periods of infection, pregnancy, or surgery. For some subtypes, the clinical course may be mild during childhood, but severe complications may develop during adulthood that are managed with regular transfusions. In these individuals, iron overload may develop, both from red cell transfusions and increased gastrointestinal absorption. Thus, some individuals with non-transfusion-dependent thalassemia may require chelation therapy.
Certain complications are observed more frequently in persons with non-transfusion-dependent thalassemias compared with transfusion-dependent thalassemia: these include thromboembolism, cerebrovascular changes, pulmonary hypertension, extramedullary hematopoiesis, leg ulcers, and red cell alloimmunization. For both groups of patients, treatment strategies are evolving. For example, the use of splenectomy is undergoing reevaluation, as harmful long-term consequences are recognized. The overall goal of management is the preservation of good quality of life at all ages using appropriate interventions.
This educational activity provides an opportunity to discuss challenges faced by hematologists in managing individuals with non-transfusion-dependent thalassemia. We will examine how the diagnosis can sometimes be difficult due to complex underlying genetic mutations. An understanding of the genotype-phenotype correlation is essential to devising management strategies and the correct application of disease-modifying therapies under development.
Comprehensive health monitoring and the appropriate use of red cell transfusions can reduce the high rates of complications observed in some persons with non-transfusion-dependent thalassemia.
- Describe the pathophysiology of non-transfusion-dependent thalassemia.
- List complications associated with non-transfusion-dependent thalassemia.
- Describe treatment and management options for patients with non-transfusion-dependent thalassemia.
- Identify strategies to improve care coordination and outcomes in non-transfusion-dependent thalassemia.
These rounds are free and require advance registration. To register: https://bit.ly/NTDTRoundsexternal icon
For more information, please contact Cynthia Sayers: firstname.lastname@example.org