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Lecture 20: Thalassemia
Sujit Sheth MD
Presentation Date:
February 19, 2026
> Thalassemia is a group of hereditary disorders associated with quantitative deficiency of the globin chains of hemoglobin.
> Depending on which gene is mutated, (typically alpha or beta), the patient will have Alpha- or Beta-Thalassemia. There are less common patterns as well, such as delta-beta thalassemia.
> Different mutations of the genes leads to a wide range of severity and phenotype, from asymptomatic carrier states, to severe transfusion-dependence.
Sujit Sheth MD
Chair, Pediatric Hematology/Oncology,
Weill Cornell Medicine
shethsu@med.cornell.edu
Disclosures for Sujit Sheth MD;
>Consultant
Novo Nordisk
Celgene / Bristol Myers Squibb
Agios
BEAM
>Steering Committee
CRISPR/ Vertex CTX001
Will discuss therapeutics not yet FDA approved – results from clinical trials
Learning Objectives
> Understand the inheritance and epidemiology of thalassemia
> Know the wide spectrum of disease and its pathophysiology
> Learn the clinical features and diagnosis
> Understand the rational management and complications
> Be aware of novel therapies in development
Left: Globin Structure of Hemoglobin. https://upload.wikimedia.org/wikipedia/commons/2/23/Oxy-Hemoglobin.jpg
Starting in 2025, lectures are eligible for Continuing Education Credit.
Link for CE:
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