Disorders of the red cell membrane

Abstract

Many genetic disorders may affect the red cell membrane and its skeleton, and usually result in hemolytic anemias. We will survey conditions that alter the mechanical properties of the red cells: hereditary spherocytosis, hereditary elliptocytosis and poikilocytosis, and conditions associated with an increase of the passive leak of the membrane to monovalent cations, the hereditary stomatocytoses. We will also consider some congenital dyserythropoietic anemias in which a reduction of the red cell production predominates, but which are associated with noticeable, secondary abnormalities of the membrane. The main clinical features and the molecular bases of these conditions will be presented. © 2006 Humana Press Inc.