1.
J Pediatr Hematol Oncol
; 46(6): e457-e462, 2024 Aug 01.
Artículo
en Inglés
| MEDLINE
| ID: mdl-38934620
RESUMEN
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.