A TRUNCATED β-SPECTRIN (202 kD) ASSOCIATED WITH HS AND ISOLATED SPECTRIN DEFICIENCY 122

Hereditary Spherocytosis (HS) is a common hemolytic anemia characterized by a chronic hemolysis with a broad spectrum of clinical severity. The red cells present a varying degree of surface area deficiency resulting in a spherocytic phenotype and increased osmotic fragility. It is now recognized that this disorders is associated with defects of the erythrocyte membrane skeleton. Spectrin, the most abundant skeletal protein, consistes in two chains, α and β, intertwined in an antiparallele manner to form heterodimers which associate at their head region to form tetramers. This skeletal network plays an essential role in determining the shape and deformability of the red cell.