The Intern At Work: Internal Medicine

155. An Approach to Thalassemia

Jul 10, 2022

Dr. Catherine Lovatt, an Internal Medicine Resident, dives into the complexities of thalassemia, a genetic blood disorder affecting hemoglobin production. She explores its various types, symptoms, and the importance of genetic counseling. The discussion also touches on treatment options and fascinating emerging therapies that could change patient care. With insights from experts in hematology and internal medicine, this episode sheds light on a crucial yet often misunderstood condition.

10:15

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Dr. Catherine Lovatt

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Quick takeaways

Thalassemia's different types highlight varying severity levels, necessitating tailored management strategies based on specific gene mutations.

Effective clinical management of thalassemia requires comprehensive diagnostic testing and ongoing treatment to address complications and monitor symptoms.

Deep dives

The Genetics and Types of Thalassemia

Thalassemia is a genetic blood disorder characterized by reduced production of hemoglobin due to mutations in the alpha or beta globin genes. There are various forms of thalassemia depending on the number of genes affected, such as alpha thalassemia, which can range from silent carriers to severe cases like hydrops fatalis, and beta thalassemia, which includes traits that can lead to significant anemia. Alpha thalassemia major can be life-threatening without intrauterine intervention, while beta thalassemia major leads to transfusion-dependent anemia if not managed properly. Understanding the severity of these conditions is crucial for treatment and involves recognizing symptoms that can range from mild microcytic anemia in carriers to life-threatening complications in more severe forms.

Understanding Thalassemia: A Comprehensive Medical Approach

10min

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In this episode we take a deep dive into thalassemia- discussing the types, aetiology ,work up and treatment. This episode was written by Dr. Catherine Lovatt (Internal Medicine Resident) and reviewed by Dr. Madeleine Verhovsek (Hematology) and Dr. Daniel Brandt Vegas (General Internal Medicine). Infographic by Jessica Nguyen.

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