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hereditary spherocytosis

Pathology: - defect in the erythrocyte membrane [1] Genetics: - associated with defects in ankyrin-1 (type 1) - associated with defects in SPTB (beta-spectrin) (type 1) autosomal dominant - associated with defects in SLC4A1 - associated with defects in EPB42 - associated with defects in alpha-spectrin (SPTA1) Clinical manifestations: - may be asymptomatic into adulthood - infection may result in hemolytic anemia - splenomegaly - exercise intolerance - jaundice - gallstones Laboratory: 1) complete blood count (CBC) - increased MCHC - increased MCV 2) peripheral smear a) spherocytes in blood b) pincer cells in blood b) polychromasia 3) reticulocyte count increased 4) direct antiglobulin test (Coombs test) a) positive in immunologically-mediated hemolytic anemias b) negative in hereditary spherocytosis 4) increased erythrocyte osmotic fragility 5) serum chemistries a) increased LDH b) increased unconjugated (indirect) bilirubin Complications: - parvovirus B19 infection may lead to transient aplastic crisis Management: 1) medical management - observation generally appropriate for hemolytic episode with bone marrow suppression after viral infection - parvovirus B19 classically associated with anemia, but other viral infections may be implicated - folate supplementation in medically managed patients [1] 2) splenectomy (laparoscopy) in patients with more severe disease a) generally cures anemia b) indications 1] severe anemia 2] dependence upon intense reticulocytosis to maintain erythrocyte count 3] coexistant disease in which anemia is deleterious

Interactions

disease interactions

Related

ankyrin-1; erythrocyte ankyrin; ankyrin-R (ANK1 ANK)

General

genetic disease of the blood/bone marrow hemolytic anemia spherocytosis (microspherocytosis)

Database Correlations

OMIM correlations MORBIDMAP correlations

References

  1. Medical Knowledge Self Assessment Program (MKSAP) 11, 14, 16, 17, 18. American College of Physicians, Philadelphia 1998, 2006, 2012, 2015, 2018. - Medical Knowledge Self Assessment Program (MKSAP) 19 Board Basics. An Enhancement to MKSAP19. American College of Physicians, Philadelphia 2022
  2. OMIM :accession 182870
  3. OMIM :accession 182900
  4. OMIM :accession 109270
  5. OMIM :accession 177070
  6. Schilling RF. Risks and benefits of splenectomy versus no splenectomy for hereditary spherocytosis--a personal view. Br J Haematol. 2009 Jun;145(6):728-32 PMID: 19388926
  7. Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008 Oct 18;372(9647):1411-26 PMID: 18940465
  8. Bolton-Maggs PH, Langer JC, Iolascon A et al Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update. Br J Haematol. 2012 Jan;156(1):37-49 PMID: 22055020