Contributions
Abstract: PB1975
Type: Publication Only
Background
Functional deficits and morphological abnormalities of red blood cells (RBC) become apparent when they are subjected to biochemical or mechanical stress in vitro, or to pathological conditions in vivo. Chorea-acanthocytosis (ChAc) is a rare disease characterized by degeneration of neurons in the basal ganglia and by the presence of misshapen RBC distinguished by their thorny protrusions, named acanthocytes.
Aims
Verify the rheological properties (deformability and aggregation) of ChAc samples, comparing them to healthy controls.
Methods
The deformability and aggregation of the samples were analyzed using Lorrca®. The aggregation was also accessed via microscopy by verification of rouleaux formations.
Results
Our data on the misshapen RBC of patients with ChAc suggest that their abnormal morphology is associated with alterations in rheological properties. We have observed a decrease in the capacity to aggregate with other RBC, however, it was noticed an increase in the force needed to tease these aggregates apart. Moreover, we have measured a decrease in deformability as compared to RBC from healthy subjects.
Conclusion
The clinical implications of such alterations, in addition to oxidative and physical stress, likely not only affect the red blood cell itself but may additionally cause neuronal damage of susceptible areas in the brain due to a possible reduction in oxygen supply or clogging of the microcapillaries.
Session topic: 29. Enzymopathies, membranopathies and other anemias
Keyword(s): Aggregation, Red blood cell
Abstract: PB1975
Type: Publication Only
Background
Functional deficits and morphological abnormalities of red blood cells (RBC) become apparent when they are subjected to biochemical or mechanical stress in vitro, or to pathological conditions in vivo. Chorea-acanthocytosis (ChAc) is a rare disease characterized by degeneration of neurons in the basal ganglia and by the presence of misshapen RBC distinguished by their thorny protrusions, named acanthocytes.
Aims
Verify the rheological properties (deformability and aggregation) of ChAc samples, comparing them to healthy controls.
Methods
The deformability and aggregation of the samples were analyzed using Lorrca®. The aggregation was also accessed via microscopy by verification of rouleaux formations.
Results
Our data on the misshapen RBC of patients with ChAc suggest that their abnormal morphology is associated with alterations in rheological properties. We have observed a decrease in the capacity to aggregate with other RBC, however, it was noticed an increase in the force needed to tease these aggregates apart. Moreover, we have measured a decrease in deformability as compared to RBC from healthy subjects.
Conclusion
The clinical implications of such alterations, in addition to oxidative and physical stress, likely not only affect the red blood cell itself but may additionally cause neuronal damage of susceptible areas in the brain due to a possible reduction in oxygen supply or clogging of the microcapillaries.
Session topic: 29. Enzymopathies, membranopathies and other anemias
Keyword(s): Aggregation, Red blood cell