Other Names for this Disease
- Congenital spherocytic hemolytic anemia
- Congenital spherocytosis
- Spherocytic anemia
- Minkowski-Chauffard disease
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hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and enlargement of the spleen. Some people with a severe form may have short stature, delayed sexual development, and skeletal abnormalities. The condition is caused by mutations in any of several genes, such as the ANK1, EPB42, SLC4A1, SPTA1, and SPTB genes. It is most commonly inherited in an autosomal dominant manner, but may be inherited in an autosomal recessive manner. There are different types of hereditary spherocytosis, which are distinguished by severity and genetic cause. Depending on severity, treatment may involve splenectomy, red cell transfusions, folic acid supplementation, and/or cholecystectomy.Hereditary spherocytosis is a condition characterized by
Last updated: 10/12/2015
- Hereditary spherocytosis. Genetics Home Reference. September, 2013; http://ghr.nlm.nih.gov/condition/hereditary-spherocytosis.
- Gus Gonzalez. Hereditary Spherocytosis. Medscape Reference. July 16, 2014; http://emedicine.medscape.com/article/206107-overview.
- Genetics Home Reference (GHR) contains information on Hereditary spherocytosis. This website is maintained by the National Library of Medicine.
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