Hereditary spherocytosis

Abstract

Hereditary spherocytosis (HS) is a relatively common hemolytic anemia; most affected individuals have mild or only moderate haemolysis. It is a heterogeneous group of disorders with regard to clinical severity, protein defects and mode of inheritance. There is usually a family history, and a typical clinical and laboratory picture so that the diagnosis is often easily made without additional laboratory tests. Atypical cases may require measurement of erythrocyte membrane proteins to clarify the nature of the membrane disorder and in the absence of a family history. Mild HS can be managed without folate supplementation and does not require splenectomy. Moderately or severely affected individuals are likely to benefit from splenectomy, which should be performed after the age of 5-6 years. (Turk Arch Ped 2009; 44 Suppl: 27-34)