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Hereditary spherocytosis

Última revisión: 12 Sep 2025
Última actualización: 17 Apr 2025

Resumen

Definición

Anamnesis y examen

Principales factores de diagnóstico

  • positive family history
  • at risk demographic
  • pallor
  • jaundice
  • splenomegaly
Todos los datos

Otros factores de diagnóstico

  • fatigue
  • hydrops fetalis or stillbirth
Todos los datos

Factores de riesgo

  • family history of splenectomy, anemia, jaundice, or hereditary spherocytosis (HS)
  • at risk demographic
Todos los datos

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

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

Pruebas diagnósticas que deben considerarse

  • eosin-5-maleimide binding test
  • acidified glycerol lysis test
  • cryohemolysis test
  • genetic analysis
  • sodium dodecyl sulfate-polyacrylamide gel electrophoresis
Todos los datos

Algoritmo de tratamiento

Agudo

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

Divulgaciones

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

Agradecimientos

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

Divulgaciones

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 por pares

Robert Schilling, MD

Professor of Medicine Emeritus

School of Medicine and Public Health

University of Wisconsin-Madison

Madison

WI

Divulgaciones

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.

Referencias

Nuestros equipos internos de evidencia y editoriales colaboran con colaboradores expertos internacionales y revisores pares para garantizar que brindemos acceso a la información más clínicamente relevante posible.

Artículos principales

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. Resumen

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  Resumen

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

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  Resumen

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

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  Resumen

Artículos de referencia

Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.
  • Hereditary spherocytosis images
  • Diferenciales

    • Nonhemolytic anemia
    • Other causes of hemolytic anemia
    • Other causes of spherocytosis
    Más Diferenciales
  • Guías de práctica clínica

    • Recommendations regarding splenectomy in hereditary hemolytic anemias
    • ICSH guidelines for the laboratory diagnosis of non-immune hereditary red cell membrane disorders
    Más Guías de práctica clínica
  • Folletos para el paciente

    Jaundice in newborn babies

    Gallstones

    Más Folletos para el paciente
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