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Don’t fight Hereditary elliptocytosis alone.
Find your community on the free RareGuru App.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.
Source: GARD Last updated on 05-01-20
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.
Last updated on 05-01-20
Hereditary elliptocytosis can be diagnosed by looking at the shape of the red blood cells under the microscope (blood smear). Genetic testing can help as well. Hereditary elliptocytosis is sometimes diagnosed by chance when other conditions are suspected.
Last updated on 05-01-20
Hereditary elliptocytosis is generally mild and very rarely life threatening.
Last updated on 05-01-20
Hereditary elliptocytosis occurs in about 1-5 in 10,000 people. It is more common in parts of the world where malaria is more common.
Last updated on 05-01-20
Treatment for hereditary elliptocytosis is often not necessary. When symptoms are severe enough, some people with this condition will be treated with transfusion or even removal of the spleen (splenectomy).
Last updated on 05-01-20
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