Highlights & Basics
- Hereditary spherocytosis (HS), an inherited hemolytic anemia, is caused by defects in red blood cell structural membrane proteins.
- May be diagnosed at any age. Children or adults may be asymptomatic until they contract parvovirus B19 infection, with resultant aplastic crisis.
- Key laboratory features are the presence of spherocytes on the blood smear in association with a negative direct antiglobulin test and an elevated reticulocyte count.
- 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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Bolton-Maggs PH, Langer JC, Iolascon A, et al; General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines for the diagnosis and management of hereditary spherocytosis - 2011 update. Br J Haematol. 2012 Jan;156(1):37-49.[Abstract][Full Text]
Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008 Oct 18;372(9647):1411-26.[Abstract]
King MJ, Garçon L, Hoyer JD, et al. ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders. Int J Lab Hematol. 2015 Jun;37(3):304-25.[Abstract][Full Text]
Iolascon A, Andolfo I, Barcellini W, et al. Recommendations regarding splenectomy in hereditary hemolytic anemias. Haematologica. 2017 Aug;102(8):1304-13.[Abstract][Full Text]
Davies JM, Lewis MP, Wimperis J, et al. Review of guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen: prepared on behalf of the British Committee for Standards in Haematology by a working party of the Haemato-Oncology task force. Br J Haematol. 2011 Nov;155(3):308-17.[Abstract][Full Text]
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