hematology and oncology
Hereditary Spherocytosis and Hereditary Elliptocytosis
Pathophysiology
Alterations in membrane proteins cause the RBC abnormalities in both disorders. Inhereditary spherocytosis,the cell membrane surface area is decreased disproportionately to the intracellular content due to loss of proteins associated with the cell membrane. The decreased surface area of the cell impairs the flexibility needed for the cell to traverse the spleen’s microcirculation, causing intrasplenic hemolysis. Inhereditary elliptocytosis,genetic mutations result in weakness of the cytoskeleton of the cell, leading to deformation of the cell. The abnormally shaped RBCs are taken up and destroyed by the spleen. 