Red blood cell membranopathies — pathogenesis, clinical presentation and diagnosis

Abstract

Erythrocyte membrane is a complex, semifluid and dynamic structure composed of lipid
components associated with a number of proteins with different functions. Membranopathies
— inherited hemolytic anemias caused by the defects in erythrocyte membranes — in terms of
genetic and pathophysiology are a very diverse group of hematologic diseases. The most
frequently observed are hereditary spherocytosis and hereditary elliptocytosis caused by
deficiencies in membrane and cytoskeleton proteins or disturbances in their interactions that
lead to a impaired deformability of red blood cells. Less common are the defects caused by increased permeability of erythrocyte membranes to monovalent cations. They are collectively
described as hereditary stomatocytosis, their molecular background is still unknown and cause
the diagnostic difficulties. Congenital deficiencies of red blood cell blood group antigens,
including the Rhnull phenotype, cause mostly mild symptoms of hemolytic anemia and affect
a small group of patients. Very rare membranopathies are dyslipidemias — erythrocyte
membrane lipid defects caused by metabolic diseases.