Last reviewed: August 2020
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)
More 1st investigations to order

Investigations to consider

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

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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