Hemolytic anemias due to disorders of red cell membrane skeleton.
During the past 10 years, knowledge of the composition, function and supramolecular assembly of the red cell membrane has been greatly expanded by progress in molecular and cell biology. Detailed information on the organization of membrane cytoskeletal proteins and their molecular characterization has allowed us to correlate a number of protein abnormalities with clinical symptoms that are peculiar to hereditary hemolytic anemias (HHA). In particular, three general principles emerge that can help us to understand the pathogenetic mechanisms of HHA: (a) protein-protein and protein-lipid interactions greatly influence the correct assembly of the membrane skeleton; (b) the red blood cell (RBC) membrane skeleton mostly determines the shape (discocyte), deformability (rheologic properties) and durability (half-life and resistence to shear stress) of the erythrocytes; (c) changes in cytoskeletal composition and/or organization can produce alterations in all of the above properties, and therefore they are responsible for the onset of the hemolytic damage.
Bossi
D
D
Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy.
Russo
M
M
D000743:Anemia, Hemolytic / Q000145:classification / Q000503:physiopathology* / Q000628:therapy; D048429:Cell Size / Q000502:physiology; D003599:Cytoskeleton / Q000737:chemistry; D004612:Elliptocytosis, Hereditary / Q000235:genetics; D004910:Erythrocyte Membrane / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D006461:Hemolysis / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics; D008854:Microscopy, Electron; D008855:Microscopy, Electron, Scanning; D013049:Spectrin / Q000737:chemistry / Q000235:genetics; D013103:Spherocytosis, Hereditary / Q000235:genetics; D013154:Spleen / Q000378:metabolism
D008565:Membrane Proteins; D013049:Spectrin