ABSTRACT

Erythrocytes are blood cells without a nucleus and with a shape of a biconcave disk. These cells have the main function of transporting oxygen through hemoglobin. Factors such as genetic alterations have consequences in these cells, causing a decrease in red blood cell deformability and permeability, and reducing red blood cell survival. Hereditary disorders of the erythrocyte membrane are caused by mutations in genes that encode various transmembrane or cytoskeletal proteins of red blood cells. These disorders include a set of hemolytic anemias that differ greatly in terms of clinical, morphological, laboratory, and molecular characteristics. This review work presents a summary of the main characteristics of erythrocytes and their pathophysiological changes, in order to allow a better basis for diagnosis and treatment.