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 bioactive membrane lipids associated with oxidant stress. Given the early promise for mitophagy-inducing agents in sickle cell disease and ready availability of antioxidants, this concept warrants continued exploration as a disease-modifying factor and a potential target for therapy.
Keyphrases
- end stage renal disease
- oxidative stress
- reactive oxygen species
- sickle cell disease
- chronic kidney disease
- newly diagnosed
- ejection fraction
- prognostic factors
- dna damage
- cell death
- peritoneal dialysis
- stem cells
- autism spectrum disorder
- machine learning
- fatty acid
- induced apoptosis
- smoking cessation
- replacement therapy
- heat stress