Molecular mechanisms in the inherited red cell membrane disorders

The inherited disorders of the erythrocyte membrane are a diverse group of disorders characterized by clinical, laboratory and molecular heterogeneity. This group of conditions is caused by mutations in genes that encode proteins vital for erythrocyte membrane structure and function. No single molecular defect is predominant. Gene defects range from coding region mutations that affect mRNA processing or protein function to promoter mutations that disrupt epigenetic control of gene expression. The current knowledge of defects responsible for red cell membrane abnormalities is reviewed.