Last reviewed: 22 Dec 2021
Last updated: 22 Oct 2020



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

  • family history¬†of splenectomy, anemia, jaundice, or HS
  • at risk demographic

Diagnostic investigations

1st investigations to order

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

Investigations to consider

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

Treatment algorithm



Shelley Crary, MD, MSCS

Associate Professor of Pediatrics

University of Arkansas for Medical Sciences

Little Rock



SC is on an advisory board for Genentech 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 reviewers

Robert Schilling, MD

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 topic.

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