Pathogenesis and Investigations in Hereditary Red Blood Cell Membrane Disorders

Abstract

Red blood cell (RBC) membrane disorders are chiefly inherited conditions caused by mutations in the genes encoding for cytoskeletal proteins or transmembrane transporters, leading to decreased red cell deformability and permeability leading to premature removal of the erythrocytes from the circulation. RBC membrane disorders can be categorized into two main subgroups: structural and permeability defects. Although clinically they may present as hemolytic anemia with the help of peripheral blood smear and specific biochemical tests the two defects can be diagnosed and differentiated.It is essential to be accurate in the differentiating between the types of defects because the curative treatment splenectomy is not benefical in all types of defects.