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. 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.

The symptoms of hereditary elliptocytosis may be different from person to person. Symptoms may appear at any age. Many people who have this condition have no symptoms at all. Most people with this condition have mild symptoms , while a few have more serious symptoms. Not everyone with hereditary elliptocytosis will have the same symptoms.

The most common signs and symptoms of hereditary elliptocytosis are:

• Anemia
  • fatigue
  • shortness of breath
• Gallstones
• Yellowing of the skin and eyes (jaundice)
• Enlarged spleen (splenomegaly)
• Very low blood levels after an infection (aplastic crisis)

Hydrops fetalis, an abnormal buildup of fluids in the body of a fetus, has been reported, as well as more serious anemia in early childhood.