Summary
Definition
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 tests
1st tests to order
- CBC
- reticulocyte count
- blood smear
- serum bilirubin
- serum aminotransferases
- direct antiglobulin test (DAT)
Tests to consider
- eosin-5-maleimide binding test
- acidified glycerol lysis test
- sodium dodecyl sulfate-polyacrylamide gel electrophoresis
Emerging tests
- genetic analysis
Treatment algorithm
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 nonrelated 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.
Differentials
- Nonhemolytic anemia
- Other causes of hemolytic anemia
- Other causes of spherocytosis
More DifferentialsGuidelines
- Recommendations regarding splenectomy in hereditary hemolytic anemias
- ICSH guidelines for the laboratory diagnosis of non-immune hereditary red cell membrane disorders
More GuidelinesPatient information
Jaundice in newborn babies
Gallstones
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