Other Names for this Disease
- Congenital spherocytic hemolytic anemia
- Congenital spherocytosis
- Minkowski-Chauffard disease
- Spherocytic anemia
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hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms may include pale skin, fatigue, anemia, jaundice, gallstones, and enlargement of the spleen. The condition is caused by mutations in any of several genes, including the ANK1, EPB42, SLC4A1, SPTA1, and SPTB genes. It is most commonly inherited in an autosomal dominant pattern, but may also be inherited in an autosomal recessive pattern. Different types of hereditary spherocytosis exist and are distinguished by their severity and genetic cause. Depending on severity, treatment may involve folic acid replacement, red cell transfusions, splenectomy, and cholecystectomy.Hereditary spherocytosis is a condition characterized by
Last updated: 9/11/2012
- Dugdale DC, Mason JR. Congenital spherocytic anemia. MedlinePlus. 2010; http://www.nlm.nih.gov/medlineplus/ency/article/000530.htm. Accessed 5/3/2011.
- Hereditary spherocytosis. Genetics Home Reference. 2010; http://ghr.nlm.nih.gov/condition/hereditary-spherocytosis. Accessed 5/3/2011.
- Genetics Home Reference (GHR) contains information on Hereditary spherocytosis. This website is maintained by the National Library of Medicine.
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