Hereditary spherocytosis

Last reviewed: 30 May 2022
Last updated: 22 Oct 2020

Summary

Definition

History and exam

Key diagnostic factors

  • positive family history
  • at risk demographic
  • pallor
  • jaundice
  • splenomegaly
More key diagnostic factors

Other diagnostic factors

  • fatigue
  • hydrops fetalis or stillbirth
Other diagnostic factors

Risk factors

  • family history of splenectomy, anemia, jaundice, or HS
  • at risk demographic
More risk factors

Diagnostic investigations

1st investigations to order

  • CBC
  • reticulocyte count
  • blood smear
  • serum bilirubin
  • serum aminotransferases
  • direct antiglobulin test (DAT)
More 1st investigations to order

Investigations to consider

  • eosin-5-maleimide binding test
  • acidified glycerol lysis test
  • sodium dodecyl sulfate-polyacrylamide gel electrophoresis
More investigations to consider

Emerging tests

  • genetic analysis

Treatment algorithm

ACUTE

neonates (<28 days old)

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

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

Contributors

Authors

Shelley Crary, MD, MSCS

Associate Professor of Pediatrics

University of Arkansas for Medical Sciences

Little Rock

AR

Disclosures

SC is on an advisory board for Genentech for a hemophilia product (unrelated to this article).

Acknowledgements

Dr Shelley Crary would like to gratefully acknowledge Dr Paula Bolton-Maggs, a previous contributor to this topic. PB-M has received travel and accommodation payments to give a series of lectures on paediatric haematology, 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.

  • 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 leaflets

    Jaundice in newborn babies

    Gallstones

    More Patient leaflets
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