Inherited Disorders of the Red Cell Membrane Skeleton

A molecular defect of spectrin in a subset of patients with hereditary elliptocytosis. Alterations in the alpha-subunit domain involved in spectrin self-association.

“…The biochemical data presented here are consistent with clinical data that indicate that HE is a heterogenous disease characterized by an autosomal dominant mode of inheritance (7,31). In part, this heterogeneity may result from the fact that several different membrane skeletal defects can give rise to elliptical morphology (7)(8)(9)(10)(11)(12)(13).…”

Esferocitosis hereditaria. Revisión. Parte I. Historia, demografía, etiopatogenia y diagnóstico

“…Durante su detención en el bazo, los esferocitos sufren distintos cambios, que los llevan finalmente a su destrucción (Figura 4). 6,7,15,[32][33][34][35][36][37][38] …”

Modeling human hematopoietic and cardiovascular diseases in zebrafish

“…Band 4.1 is a structural membrane protein found in erythrocytes, which functions to anchor the spectrin-actin cytoskeleton to the erythrocyte plasma membrane to maintain stability and red cell morphology. In humans, protein 4.1 deficiency causes hereditary elliptocytosis, a hemolytic anemia characterized by erythrocytes that are elliptical in shape rather than biconcave disks (Lux and Palek, 1995). The gene mutated in the riesling (ris) mutant encodes another protein required for maintaining the integrity of the erythrocyte cell membrane (Liao et al, 2000b).…”

“…The number of microtubules in ris erythrocytes are reduced by half, suggesting a role for ␤-spectrin in the aggregation and maintenance of microtubules in the red cell cytoskeleton (Liao et al, 2000b). Hereditary spherocytosis, in which patients have hemolytic anemia, characterized by spherocytic (completely round) erythroid cells, is the human hematopoietic disorder analogous to the zebrafish ris mutant phenotype (Lux and Palek, 1995).…”

“…Human hemolytic anemia is also caused by mutations in several other genes shown to be critical to red cell membrane ultrastructure, including ankyrin, erythroid ␣-spectrin, and band 3 (Lux and Palek, 1995). Recently, mutations in band 3 (also called anion exchanger 1) were found to cause the anemia observed in the zebrafish retsina (ret) mutant (Paw, 2001;Paw et al, 2003).…”