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Hereditary spherocytosis

Last reviewed: 21 Oct 2024
Last updated: 29 Aug 2024

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • pallor
  • jaundice
  • splenomegaly
Full details

Other diagnostic factors

  • fatigue
  • hydrops foetalis or stillbirth
Full details

Risk factors

  • family history of splenectomy, anaemia, jaundice, or HS
  • at risk demographic
Full details

Diagnostic investigations

1st investigations to order

  • FBC
  • reticulocyte count
  • blood smear
  • serum bilirubin
  • serum aminotransferases
  • direct anti-globulin test (DAT)
Full details

Investigations to consider

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

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 reimbursed for membership on a drug and safety monitoring board (Novartis) for a non-related 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 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

    • Non-haemolytic anaemia
    • Other causes of haemolytic anaemia
    • Other causes of spherocytosis
    More Differentials
  • Guidelines

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

    Jaundice in newborn babies: what is it?

    Jaundice in newborn babies: what treatments work?

    More Patient information
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