Hereditary Elliptocytosis: A Rare Red Cell Membrane Disorder

Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.

Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutations in genes encoding various red cell membrane and skeletal proteins. Red cell membrane, a composite structure composed of lipid bilayer linked to spectrin-based membrane skeleton is responsible for the unique features of flexibility and mechanical stability of the cel...

Viscoelastic properties of red cell membrane in hereditary elliptocytosis.

The viscoelastic properties of the RBC membrane are in part determined by a submembrane network of proteins consisting of spectrin alpha beta heterodimers (SpD) assembled head-to-head to form spectrin tetramers (SpT) and spectrin oligomers (SpO). SpT, in turn, are connected into a two-dimensional network by the linkage of distal ends of SpT to protein 4.1 and actin. With the micropipette techni...

The 4.1.(-) hereditary elliptocytosis.

Red Blood Cell Membrane Disorder Panel

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...