Highlights & Basics
- Hereditary spherocytosis is 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.
Quick Reference
History & Exam
Key Factors
Other Factors
Diagnostics Tests
Treatment Options
Definition
Epidemiology
Etiology
Pathophysiology
Images
Blood smear of a patient with HS; spherocyte indicated
A schematic model of the organization of the red-cell membrane (the proteins and lipids are not drawn to scale)
Diagnostic algorithm for HS
Presentation of HS by age
Jaundiced sclera in eye of child with HS
Blood smear of patient with HS (A) compared with normal blood smear (B); Pincer cell (mushroom-shaped cell) indicated
Citations
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Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008;372:1411-26.[Abstract]
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