Erythrocyte Glyoxalase II Deficiency With Coincidental Hereditary Elliptocytosis

Erythrocyte glyoxalase II deficiency with coincidental hereditary elliptocytosis.

Erythrocyte deformability and hereditary elliptocytosis.

Hereditary elliptocytosis (HE) is a hereditary membranopathy that comprises a heterogeneous group of diseases, which share irreversible erythrocyte elongation with a prolonged longitudinal diameter in relation to the cross-section (elliptocytes and ovalocytes), which acts as a morphological sign to guide diagnosis. It is characterised by certain molecular alterations to cytoskeleton proteins, s...

Hereditary elliptocytosis with protein band 4.1 deficiency in the dog.

A dog with persistent elliptocytosis was studied. The dog had membrane protein band 4.1 deficiency, microcytosis, shortened erythrocyte lifespan, increased osmotic sensitivity, and a mild glutathione deficiency. Erythrocyte deformability and membrane stability were adversely effected. The dog's parents had decreased band 4.1, decreased stability, and some elliptocytosis. This disorder in dogs c...

Increased erythrocyte adhesion in mice and humans with hereditary spherocytosis and hereditary elliptocytosis.

Mice with disruptions of the red blood cell (RBC) cytoskeleton provide severe hemolytic anemia models in which to study multiorgan thrombosis and infarction. The incidence of cerebral infarction ranges from 70% to 100% in mice with alpha-spectrin deficiency. To determine whether mutant RBCs abnormally bind adhesive vascular components, we measured adhesion of mouse and human RBCs to immobilized...

Alteration of the erythrocyte membrane skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis, and pyropoikilocytosis.

The membrane skeleton of normal erythrocytes is largely organized into a hexagonal lattice of junctional complexes (JC) crosslinked by spectrin tetramers, and occasional double tetramers and hexamers. To explore possible skeletal alterations in hereditary spherocytosis (HS), elliptocytosis (HE), and pyropoikilocytosis (HPP), we have studied the ultrastructure of the spread membrane skeletons fr...