Last reviewed: June 2018
Last updated: May  2018

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • pallor
  • jaundice
  • splenomegaly

Other diagnostic factors

  • fatigue
  • hydrops foetalis or stillbirth

Risk factors

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

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
  • osmotic fragility (OF) test
Full details

Emerging tests

  • genetic analysis
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Associate Professor of Pediatrics

University of Arkansas for Medical Sciences

Little Rock

AR

Disclosures

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 reviewers VIEW ALL

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 monograph.

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