hereditary spherocytosis
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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
- complete blood count (CBC)
- peripheral smear
- reticulocyte count increased
- direct antiglobulin test (Coombs test)
- positive in immunologically-mediated hemolytic anemias
- negative in hereditary spherocytosis
- increased erythrocyte osmotic fragility
- serum chemistries
Complications
- parvovirus B19 infection may lead to transient aplastic crisis
Management
- 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]
- observation generally appropriate for hemolytic episode with bone marrow suppression after viral infection
- splenectomy (laparoscopy) in patients with more severe disease
- generally cures anemia
- indications
- severe anemia
- dependence upon intense reticulocytosis to maintain erythrocyte count
- coexistant disease in which anemia is deleterious
More general terms
Additional terms
References
- ↑ 1.0 1.1 1.2 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 - ↑ OMIM https://mirror.omim.org/entry/182870
- ↑ OMIM https://mirror.omim.org/entry/182900
- ↑ OMIM https://mirror.omim.org/entry/109270
- ↑ OMIM https://mirror.omim.org/entry/177070
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/19388926
- ↑ Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008 Oct 18;372(9647):1411-26 PMID: https://www.ncbi.nlm.nih.gov/pubmed/18940465
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/22055020
Patient information
hereditary spherocytosis patient information