Hereditary spherocytosis is a clinically heterogeneous, genetically determined red blood cell membrane disorder resulting in
hemolytic anemia. A deficiency of
spectrin, the largest and most abundant structural
protein of the erythrocyte membrane skeleton, results in the formation of spherocytes which lack the strength, durability, and flexibility to withstand the stresses of the circulation. Clinical manifestations of the disease are primarily dependent on the severity of
hemolysis, which additionally results in an increased incidence of pigment
gallstones. The likelihood of
cholelithiasis is directly related to patient age and is uncommon before 10 years of age.
Splenectomy is indicated in virtually every patient. When the disease is diagnosed in early childhood, the risk of overwhelming postsplenectomy
sepsis makes it advisable to delay
splenectomy until after 6 years of age if possible. At the time of
splenectomy, it is important to identify and remove any accessory spleens. If
gallstones are present,
cholecystectomy should be performed. Although spherocytosis persists following
splenectomy,
hemolysis is alleviated and clinical cure of the
anemia is achieved for most patients. Patients with recessively inherited spherocytosis are exceptions. Although they are significantly benefited by
splenectomy, their
anemia is not completely corrected.
Splenectomy reduces
hemolysis in all patients and thereby decreases the risk for development of pigment
gallstones. Excision of an
enlarged spleen removes the danger of traumatic
rupture.