Fundamentos biológicos, bioquímicos y genéticos de la esferocitosis hereditaria

The erythrocyte membrane plays an important role in the shape and deformability of the cell, is composed by a lipid bilayer and a cytoskeleton which contain 15 main proteins and numberless of minor ones. There are horizontal interaction (spectrin-spectrin and spectrin-actin-4.1 protein), and vertical interactions (spectrin-AE1-ankyrin and 4.1 protein glucophorin-AE1) between those proteins. Defects in the horizontal interaction produce hereditary elliptocytosis and hereditary pyropoikilocytosis, whereas defects in the vertical interactions to hereditary spherocytosis (HS) and hereditary ovalocytosis. The HS is a hemolytic anemia of variable severity, characterized by spheroidal, dense, fragile erythrocytes, which are trapped in the spleen. The deficient proteins more commonly observed in HS are ankyrin, spectrins, AE1 and 4.2 protein. Although reports on HS in Mexico are scarce, HS has been observed in our country with a higher frequency than hemoglobinopathies (31.3 vs 25.8%) in selected population (patients with hemolytic anemia). In this work the biological, biochemical and genetic aspects of the erythrocyte membrane as well as hereditary spherocytosis disease are reviewed.