[Hereditary diseases of erythrocyte membrane: from clinical aspects to underlying genetical and molecular mechanisms].
During the past years many studies on erythrocyte membrane structure and function have allowed for exponential development of this field. Inborn errors of red cell membrane include a variety of disorders characterized by alterations of the membrane skeleton or other membrane proteins. Most recently, many studies have been published using methods from molecular biology allowing for clarification of genotype phenotype relationship. This review outlines in details clinical aspects and organisational consequences of defects molecules of membrane proteins and skeleton and their contributions to the pathophysiology of hemolytic anaemia.
Bichis
M
M
Zentrum für Labormedizin, Kantonsspital Aarau, 5001 Aarau, Suisse.
Huber
A R
AR
D000745:Anemia, Hemolytic, Congenital / Q000097:blood* / Q000235:genetics*; D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics; D004612:Elliptocytosis, Hereditary / Q000097:blood / Q000235:genetics; D004910:Erythrocyte Membrane / Q000378:metabolism*; D006801:Humans; D013049:Spectrin / Q000235:genetics; D013103:Spherocytosis, Hereditary / Q000097:blood / Q000235:genetics
D001457:Anion Exchange Protein 1, Erythrocyte; D013049:Spectrin