The diagnosis and management of hereditary spherocytosis

Hereditary spherocytosis (HS) is relatively common in Caucasian populations; most individuals have mild or only moderate disease. There is commonly a family history and a typical clinical and laboratory picture so that the diagnosis is usually easily made without additional laboratory tests. Atypical cases may require measurement of membrane proteins and molecular genetics to clarify the nature of the membrane disorder. It is particularly important to rule out stomatocytosis because splenectomy is contraindicated because of the thrombotic risk. Mild HS can be managed without folate supplements and does not require splenectomy. Moderately and severely affected individuals are likely to benefit from splenectomy, which should be performed after the age of 6 and with appropriate counselling about the risk of infection. In all cases careful dialogue between physician, child and the family is essential. Laparoscopic surgery can result in shorter hospital stay and less pain.