What is Elliptocytosis?

Elliptocytosis, also called ovalocytosis, is a hereditary blood disorder that causes red blood cells to become abnormally shaped. Red blood cells are usually disc-shaped with concave surfaces; in people with hereditary ovalocytosis, the cells are elliptical. This occurs as a result of a cell membrane defect, and can lead to anemia and other symptoms.

This condition is the result of defects in genes which code for proteins that make up the cell membranes of red blood cells. The proteins are part of what is called the red blood cell cytoskeleton, a multi-protein molecule which provides the cell membrane with durability and flexibility. When these proteins are defective, red blood cell membranes are less durable and less flexible. The membranes are more prone to breaking and becoming permanently deformed.

There are three main categories of this disease: common hereditary elliptocytosis, spherocytic elliptocytosis, and Southeast Asian ovalocytosis. The latter two subtypes are rare, as they predominantly affect certain ethnic groups, whereas the common hereditary subtype is much more widespread. All three subtypes are inherited in an autosomal fashion, meaning that the genes which cause the disorder are not on sex chromosomes. Therefore, women and men have an equal risk of inheriting the genes from a parent. In addition, the genes which cause the disorder are dominant, meaning that only one defective copy of a gene is needed to cause disease.

Although the disorder is inherited in a dominant fashion, ovalocytosis is a spectrum disorder. This means that people with the condition do not experience symptoms with the same degree of severity. Many people with this blood disorder have no symptoms at all, while others have symptoms such as anemia, gallbladder disease, or an enlarged spleen.

One of the most common elliptocytosis symptoms is hemolytic anemia, a condition in which anemia is caused by the breakdown of red blood cells at an abnormally high rate. This condition may cause fatigue, fainting, and jaundice, and may lead to heart failure in severe cases. People with moderate to severe hemolytic anemia are more likely to experience other symptoms such as an enlarged spleen or gallbladder disease.

Appropriate elliptocytosis treatment depends on the nature of symptoms. Individuals who are asymptomatic do not require treatment at all. Hemolytic anemia is treated with folate, which helps reduce the rate of red blood cell destruction. People with severe anemia are at increased risk of gallstones, an enlarged spleen, and infection. A diseased gallbladder or chronically enlarged spleen may be removed via surgery. The spleen is removed only when absolutely necessary, however, as removal leaves the patient susceptible to bacterial blood infection.