Thalassemia in Pediatric Hematology

HemeTalks: Conversations in Hematology Education

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Join us for a vital conversation on thalassemia in pediatric hematology with Drs. Sujit Sheth and Ashutosh Lal. Thalassemia is one of the most common inherited blood disorders in children globally, especially in populations from the Mediterranean, Middle East, South Asia, and Africa. This episode explores the different types of thalassemia, strategies for early diagnosis, the importance of transfusion and chelation therapies, and evolving curative options like stem cell transplantation and gene therapy. Using the case of a young child with beta-thalassemia major, we’ll examine both challenges and new hope on the horizon for long-term disease management.

Learning Objectives:

Understand the types and diagnostic approach to thalassemia in pediatric patients
Review current standards of care including transfusions and chelation therapy
Explore curative treatment options, including stem cell transplant and gene therapy

Clinical Pearls:

The thalassemias are a group of disorders of ineffective erythropoiesis, with a wide spectrum of clinical presentations, ranging from a mild anemia to transfusion dependence.
The diagnosis is based on the clinical presentation, routine hematologic testing and for a more complete picture and some prognostic relevance, genetic testing of the alpha and beta globin genes.
Management includes close monitoring for all patients, episodic or regular transfusions, iron chelation therapy as indicated, and assessment for stem cell transplant or gene therapy in specific cases.

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