Episode 092: Heme Consult Series: Congenital Causes of Hemolytic Anemia
The Fellow on Call: The Heme/Onc Podcast
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Exploring Sodium Potassium Pump Issues and Enzyme Deficiencies in Hemolytic Anemia
This chapter delves into sodium potassium pump issues, the effects of over-hydration or under-hydration of cells, and considerations regarding splenectomy. It transitions to enzyme deficiencies, particularly highlighting G6PD deficiency and PK deficiency. The focus then shifts to an in-depth exploration of G6PD deficiency, covering its prevalence, impact on red cells under oxidative stress, mutation spectrum, inheritance patterns, diagnostic complexities, and the significance of testing conditions for precise diagnosis.
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