Last reviewed:October 2019
Last updated:May  2018



History and exam

Key diagnostic factors

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

Other diagnostic factors

  • fatigue
  • hydrops fetalis or stillbirth

Risk factors

  • FHx of splenectomy, anemia, jaundice, or HS
  • white ancestry

Diagnostic investigations

1st investigations to order

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

Investigations to consider

  • eosin-5-maleimide binding test
  • acidified glycerol lysis test
  • sodium dodecyl sulfate-polyacrylamide gel electrophoresis
  • osmotic fragility (OF) test
Full details

Treatment algorithm


Associate Professor of Pediatrics

University of Arkansas for Medical Sciences

Little Rock



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

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 reviewersVIEW ALL

Professor of Medicine Emeritus

School of Medicine and Public Health

University of Wisconsin-Madison




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

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