Summary
Definition
History and exam
Key diagnostic factors
- presence of risk factors
- positive family history
- pallor
- jaundice
- splenomegaly
Other diagnostic factors
- fatigue
- hydrops foetalis or stillbirth
Risk factors
- family history of splenectomy, anaemia, jaundice, or hereditary spherocytosis (HS)
- at risk demographic
Diagnostic investigations
1st investigations to order
- FBC
- reticulocyte count
- blood smear
- serum bilirubin
- serum aminotransferases
- direct anti-globulin test (DAT)
Investigations to consider
- eosin-5-maleimide binding test
- acidified glycerol lysis test
- cryohaemolysis test
- genetic analysis
- sodium dodecyl sulfate-polyacrylamide gel electrophoresis
Treatment algorithm
neonates (<28 days old)
infants (>28 days old), children, and adults: severe hereditary spherocytosis (HS)
infants (>28 days old), children, and adults: mild-to-moderate hereditary spherocytosis (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 non-related 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.
References
Key articles
Eber SW, Armbrust R, Schroter W. Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. J Pediatr. 1990 Sep;117(3):409-16. Abstract
Bolton-Maggs PH, Langer JC, Iolascon A, et al; General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines for the diagnosis and management of hereditary spherocytosis - 2011 update. Br J Haematol. 2012 Jan;156(1):37-49.Full text Abstract
Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008 Oct 18;372(9647):1411-26. Abstract
King MJ, Garçon L, Hoyer JD, et al. ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders. Int J Lab Hematol. 2015 Jun;37(3):304-25.Full text Abstract
Iolascon A, Andolfo I, Barcellini W, et al. Recommendations regarding splenectomy in hereditary hemolytic anemias. Haematologica. 2017 Aug;102(8):1304-13.Full text Abstract
Davies JM, Lewis MP, Wimperis J, et al. Review of guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen: prepared on behalf of the British Committee for Standards in Haematology by a working party of the Haemato-Oncology task force. Br J Haematol. 2011 Nov;155(3):308-17.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Non-haemolytic anaemia
- Other causes of haemolytic anaemia
- Other causes of spherocytosis
More DifferentialsGuidelines
- Recommendations regarding splenectomy in hereditary hemolytic anemias
- ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders
More GuidelinesPatient information
Jaundice in newborn babies: what is it?
Jaundice in newborn babies: what treatments work?
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