Episode 092: Heme Consult Series: Congenital Causes of Hemolytic Anemia
Feb 8, 2024
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Explore rare inherited conditions causing hemolytic anemia, including membranopathies and enzyme deficiencies. Learn about hereditary spherocytosis, hereditary elliptocytosis, G6PD deficiency, and PK deficiency. Discover diagnosis and treatment considerations for these disorders, and recent advances in treatment options.
Differentiating between inherited membranopathies and enzyme deficiencies is crucial in diagnosing congenital causes of hemolytic anemia.
Understanding the inheritance patterns and clinical presentations of hereditary spherocytosis, hereditary elliptocytosis, and enzyme deficiencies is essential for accurate diagnosis and management.
Deep dives
Overview of Congenital Causes of Hemolytic Anemia
The podcast episode delves into congenital causes of hemolytic anemia, focusing on various conditions like hereditary spherocytosis, hereditary elliptocytosis, and others. Different inheritance patterns and clinical presentations are highlighted, providing a comprehensive understanding of these conditions. Specific examples such as spherocytes in hereditary spherocytosis and elliptical-shaped cells in hereditary elliptocytosis illustrate the key points discussed.
Diagnosis and Treatment of Hereditary Spherocytosis
The episode explains the laboratory findings and diagnostic approach for hereditary spherocytosis. It mentions relevant indicators like anemia, reticulocytosis, and distinct peripheral smear characteristics. Treatment modalities are discussed, emphasizing the role of splenectomy in severe cases and the importance of folic acid supplementation for all patients.
Insights into Hereditary Elliptocytosis
Hereditary elliptocytosis, characterized by elliptical-shaped red blood cells, is explored in the podcast. Different subtypes of the condition are detailed, ranging from asymptomatic to severe forms. Laboratory findings, diagnostic considerations, and the inheritance pattern of hereditary elliptocytosis are outlined, providing a clear overview of this congenital hemolytic anemia.
Understanding Membrane Disorders and Enzyme Deficiencies
The episode discusses membrane disorders affecting red blood cells, such as stomatocytes in sodium-potassium pump issues like hydrocytosis and zerocytosis. Additionally, enzyme deficiencies like G6PD deficiency and pyruvate kinase deficiency are explored. The inheritance patterns, clinical manifestations, diagnostic approaches, and treatment options for these enzyme deficiencies are highlighted for a comprehensive understanding.
In the next part of this heme consult series, we discuss several congenital causes of hemolytic anemias. These diseases are relatively rare, but in patients presenting with concerns for hemolysis on history and on labs, but with a negative DAT, it is important to have these in your differential diagnosis! We take you through how to think about these disorders, their diagnosis, and management.
If you have not done so already, be sure to check out Episode 091 where we discuss our initial approach to the diagnosis of hemolytic anemias. We also discuss the most common inherited cause of hemolytic anemia, G6PD deficiency, in that episode!
Content:
- When should we suspect inherited causes of hemolytic anemia?
- What are important examples of membranopathies that can cause hemolytic anemia?
- What are important enzyme deficiencies that can cause hemolytic anemia?
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