Hereditary elliptocytosis

A congenital RBC structural membrane disorder that is usually Autosomal Dominant and leads to increased numbers of RBCs with an elliptical shape (oval shaped). The defect is usually associated with a cytoskeletal scaffold of the RBC membrane. Mutations in the Spectrin genes (Spectrin protein is a structural protein) is the most common finding. Severe cases can lead to a hemolytic anemia.