Elliptocytosis, rhesus-unlinked type, EL2
Type of disease: Rare conditions
Elliptocytosis 2, also called EL2 is a disease that causes red blood cells to be transformed from a regular circle shape to an elliptical shape. Most people with this disease have no symptoms, but symptoms can include tiredness, shortness of breath, and jaundice (when the skin and eyes turn yellow). Additionally, the individual may have an enlarged spleen or anemia (having problems with iron levels in the blood). EL2 is genetic, meaning one or both of the parents has the disease and passed it on to the child.
EL2 can be diagnosed using a blood smear. This is done by examining a small sample of blood under a microscope to see the shape of the red blood cells. The smear is performed if the individual has a family history of the disease and has displayed symptoms of EL2. There is no treatment for elliptocytosis 2 because it is typically benign, but sometimes removal of the spleen is necessary in order to prevent further cell damage. There are also treatment options for anemia if it occurs as a result of EL2. People with EL2 can live long lives and remain unaffected by the condition. If you or a family member has been diagnosed with EL2, talk to your doctor about available treatment options.