Hereditary Spherocytosis with Mitochondrial Retention, Increased Oxidative Stress, and Alterations to Bioactive Membrane Lipids.

Abstract excerpt

The clinical course for Hereditary Spherocytosis (HS) patients is highly varied, even within families with identical driving mutations. Here, we describe four siblings with HS attributed to an unreported SPTB mutation. All patients displayed an increased fraction of mitochondria-positive erythrocytes. This was associated with increased reactive oxygen species (ROS) generation and alteration to alterations to...

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