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
- oxidative stress
- reactive oxygen species
- end stage renal disease
- chronic kidney disease
- ejection fraction
- sickle cell disease
- newly diagnosed
- dna damage
- prognostic factors
- stem cells
- machine learning
- risk assessment
- climate change
- artificial intelligence
- human health
- endoplasmic reticulum stress
- nlrp inflammasome
- endoplasmic reticulum
- heat shock protein