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Hereditary spherocytosis

Last reviewed: 8 Apr 2025
Last updated: 17 Apr 2025

Summary

Definition

History and exam

Key diagnostic factors

  • positive family history
  • at risk demographic
  • pallor
  • jaundice
  • splenomegaly
Full details

Other diagnostic factors

  • fatigue
  • hydrops fetalis or stillbirth
Full details

Risk factors

  • family history of splenectomy, anemia, jaundice, or hereditary spherocytosis (HS)
  • at risk demographic
Full details

Diagnostic tests

1st tests to order

  • CBC
  • reticulocyte count
  • blood smear
  • serum bilirubin
  • serum aminotransferases
  • direct antiglobulin test (DAT)
Full details

Tests to consider

  • eosin-5-maleimide binding test
  • acidified glycerol lysis test
  • cryohemolysis test
  • genetic analysis
  • sodium dodecyl sulfate-polyacrylamide gel electrophoresis
Full details

Treatment algorithm

ACUTE

neonates (<28 days old)

infants (>28 days old), children, and adults: severe hereditary spherocytosis (HS)

infants (>28 days old), children, and adults: mild-to-moderate hereditary spherocytosis (HS)

Contributors

Authors

Shelley Crary, MD, MSCS

Associate Professor of Pediatrics

University of Arkansas for Medical Sciences

Little Rock

AR

Disclosures

SC is reimbursed for membership on a drug and safety monitoring board (Novartis) for a nonrelated drug.

Acknowledgements

Dr Shelley Crary would like to gratefully acknowledge Dr Paula Bolton-Maggs, a previous contributor to this topic.

Disclosures

PB-M has received travel and accommodation payments to give a series of lectures on pediatric hematology, one of which was on HS. She also was an expert witness in a legal case concerning a child with HS. PB-M is an author of some references cited in this topic.

Peer reviewers

Robert Schilling, MD

Professor of Medicine Emeritus

School of Medicine and Public Health

University of Wisconsin-Madison

Madison

WI

Disclosures

RS is an author of a number of references cited in this topic.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

Eber SW, Armbrust R, Schroter W. Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. J Pediatr. 1990 Sep;117(3):409-16. Abstract

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.Full text  Abstract

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.Full text  Abstract

Iolascon A, Andolfo I, Barcellini W, et al. Recommendations regarding splenectomy in hereditary hemolytic anemias. Haematologica. 2017 Aug;102(8):1304-13.Full text  Abstract

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.Full text  Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
  • Hereditary spherocytosis images
  • Differentials

    • Nonhemolytic anemia
    • Other causes of hemolytic anemia
    • Other causes of spherocytosis
    More Differentials
  • Guidelines

    • Recommendations regarding splenectomy in hereditary hemolytic anemias
    • ICSH guidelines for the laboratory diagnosis of non-immune hereditary red cell membrane disorders
    More Guidelines
  • Patient information

    Jaundice in newborn babies

    Gallstones

    More Patient information
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