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Lecture 20: Thalassemia

Sujit Sheth MD

Presentation Date: 

February 19, 2026

About This Lecture
  • 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.

Speaker Disclosures

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

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