Molecular pathology of inherited erythrocyte membrane disorders: hereditary spherocytosis and elliptocytosis.
Hereditary spherocytosis and elliptocytosis are common genetic defects of the red blood cell membrane skeleton. In recent years rapid advances have been made in the knowledge of the protein structure and assembly of the cytoskeleton. Thanks to the wide use of protein analysis methods several alterations have been discovered in functionally important domains of the different cytoskeletal proteins in these diseases. The cloning of cDNA for the majority of the cytoskeletal proteins allows us to begin elucidating some of these defects at the DNA level. This paper will review the effects of recent advances upon: cytoskeleton structure and assembly; molecular pathology of spherocytosis, elliptocytosis and pyropoikilocytosis.
Iolascon
A
A
Dipartimento di Pediatria, Clinica Pediatrica Ia, Università, Napoli, Italy.
Miraglia del Giudice
E
E
Camaschella
C
C
D000328:Adult; D000818:Animals; D001798:Blood Proteins / Q000172:deficiency / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000172:deficiency / Q000235:genetics*; D004612:Elliptocytosis, Hereditary / Q000097:blood / Q000235:genetics*; D004910:Erythrocyte Membrane / Q000737:chemistry / Q000648:ultrastructure*; D004913:Erythrocytes, Abnormal / Q000648:ultrastructure; D005796:Genes; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics*; D051379:Mice; D008817:Mice, Mutant Strains / Q000097:blood / Q000235:genetics; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D015995:Prevalence; D013103:Spherocytosis, Hereditary / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
D001798:Blood Proteins; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins