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Hereditary spherocytosis

Last updated: March 10, 2021

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Hereditary spherocytosis (HS) is the most common congenital hemolytic disorder among individuals of northern European descent. In most cases, it is an autosomal dominant disease that is caused by red blood cell (RBC) membrane protein defects, which render the RBCs more vulnerable to osmotic stress and hemolysis. Clinical presentation ranges from mild HS, which is generally asymptomatic, to severe HS, which can already present in utero with hydrops fetalis. Moderate HS, which is the most common form, usually presents in infancy or childhood with the classic triad of anemia, jaundice, and splenomegaly. Diagnosis is established based on family history, typical laboratory findings (e.g., elevated mean corpuscular hemoglobin concentration and RBC distribution width), and tests (e.g., eosin-5-maleimide binding test, osmotic fragility test). Treatment depends on the severity of the disease and involves acute measures (e.g., red blood cell transfusions, phototherapy), medication (e.g., folic acid supplementation), and splenectomy. HS patients are also at risk for complications such as hemolytic and aplastic crises, megaloblastic anemia, and gallstone formation.

  • Incidence: 1/5000 in the US [1]
  • Most common inherited hemolytic disease among individuals of Northern European descent

Epidemiological data refers to the US, unless otherwise specified.

Genetic mutation → defects in RBC membrane proteins (especially spectrin and/or ankyrin) responsible for tying the inner membrane skeleton with the outer lipid bilayer → continuous loss of lipid bilayer components → decreased surface area of RBCs in relation to volume sphere-shaped RBCs with decreased membrane stabilityinability to change form while going through narrowed vessels →

References:[2][3]

References:[4]

References:[4]

We list the most important complications. The selection is not exhaustive.

  1. Wang C, Cui Y, Li Y, Liu X, Han J. A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model.. Intractable & rare diseases research. 2015; 4 (2): p.76-81. doi: 10.5582/irdr.2015.01002 . | Open in Read by QxMD
  2. Hereditary Spherocytosis. https://ghr.nlm.nih.gov/condition/hereditary-spherocytosis. Updated: April 3, 2018. Accessed: April 4, 2018.
  3. Njeze GE. Gallstones. Niger J Surg. 2013; 19 (2): p.49-55. doi: 10.4103/1117-6806.119236 . | Open in Read by QxMD
  4. Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008; 372 (9647): p.1411-1426. doi: 10.1016/S0140-6736(08)61588-3 . | Open in Read by QxMD
  5. Herold G. Internal Medicine. Herold G ; 2014
  6. Le T, Bhushan V, Sochat M, Petersen M, Micevic G, Kallianos K. First Aid for the USMLE Step 1 2014. McGraw-Hill Medical ; 2014
  7. Mentzer WC. Hereditary spherocytosis: Clinical features, diagnosis, and treatment. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/hereditary-spherocytosis-clinical-features-diagnosis-and-treatment.Last updated: April 6, 2017. Accessed: April 12, 2017.