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.[15369] Diagnosis of this condition is made by looking at the shape of the red blood cells under a microscope. Treatment is usually not necessary unless severe anemia occurs. In severe cases, surgery to remove the spleen may decrease the rate of red blood cell damage. HE is generally not life-threatening.