An inherited abnormality of the red blood cell, caused by defects in structural membrane proteins. It is the most common form of inherited hemolytic anemia in the US and northern Europe. The severity of resultant hemolysis is related to the type and amount of membrane disruption.
May be diagnosed at any age. The key laboratory features are the presence of spherocytes on the blood smear in association with a negative direct antiglobulin test (DAT) and an elevated reticulocyte count.
May be newly diagnosed in children who present with severe anemia due to parvovirus infection. Patients may also be completely asymptomatic. In these cases, HS may be detected on a blood count/smear done for other reasons.
Management depends on the severity of the hemolysis and degree of anemia, but is generally supportive for most patients.
Splenectomy is the treatment of choice in patients with severe HS. This is best avoided until at least 6 years of age to reduce the risk of postsplenectomy sepsis.
Blood smear of patient with HS (A) compared with normal blood smear (B); Pincer cell (mushroom-shaped cell) indicated
From the collection of Paula Bolton-Maggs, Manchester University, UK