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Hereditary spherocytosis

Última revisão: 12 Aug 2025
Última atualização: 17 Apr 2025

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • positive family history
  • at risk demographic
  • pallor
  • jaundice
  • splenomegaly
Detalhes completos

Outros fatores diagnósticos

  • fatigue
  • hydrops fetalis or stillbirth
Detalhes completos

Fatores de risco

  • family history of splenectomy, anemia, jaundice, or hereditary spherocytosis (HS)
  • at risk demographic
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

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

Investigações a serem consideradas

  • eosin-5-maleimide binding test
  • acidified glycerol lysis test
  • cryohemolysis test
  • genetic analysis
  • sodium dodecyl sulfate-polyacrylamide gel electrophoresis
Detalhes completos

Algoritmo de tratamento

AGUDA

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)

Colaboradores

Autores

Shelley Crary, MD, MSCS

Associate Professor of Pediatrics

University of Arkansas for Medical Sciences

Little Rock

AR

Declarações

SC is reimbursed for membership on a drug and safety monitoring board (Novartis) for a nonrelated drug.

Agradecimentos

Dr Shelley Crary would like to gratefully acknowledge Dr Paula Bolton-Maggs, a previous contributor to this topic.

Declarações

PB-M has received travel and accommodation payments to give a series of lectures on pediatric hematology, 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.

Revisores

Robert Schilling, MD

Professor of Medicine Emeritus

School of Medicine and Public Health

University of Wisconsin-Madison

Madison

WI

Declarações

RS is an author of a number of references cited in this topic.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

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. Resumo

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.Texto completo  Resumo

Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008 Oct 18;372(9647):1411-26. Resumo

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.Texto completo  Resumo

Iolascon A, Andolfo I, Barcellini W, et al. Recommendations regarding splenectomy in hereditary hemolytic anemias. Haematologica. 2017 Aug;102(8):1304-13.Texto completo  Resumo

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.Texto completo  Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
  • Hereditary spherocytosis images
  • Diagnósticos diferenciais

    • Nonhemolytic anemia
    • Other causes of hemolytic anemia
    • Other causes of spherocytosis
    Mais Diagnósticos diferenciais
  • Diretrizes

    • Recommendations regarding splenectomy in hereditary hemolytic anemias
    • ICSH guidelines for the laboratory diagnosis of non-immune hereditary red cell membrane disorders
    Mais Diretrizes
  • Folhetos informativos para os pacientes

    Jaundice in newborn babies

    Gallstones

    Mais Folhetos informativos para os pacientes
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