Learn About Hereditary Elliptocytosis

What is the definition of Hereditary Elliptocytosis?
Hereditary elliptocytosis (HE) refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms vary from very mild to severe and can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Some people with this condition have an enlarged spleen. Hereditary elliptocytosis is caused by a genetic change in either the EPB41, SPTA1, or SPTB gene, and is inherited in an autosomal dominant pattern. Hereditary pyropoikilocytosis is a related condition with more serious symptoms, and is inherited in an autosomal recessive pattern. Diagnosis of this condition is made by looking at the shape of the red blood cells under a microscope.
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Published Date: May 06, 2022
Published By: Genetic and Rare Diseases Informnation Center

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