Elliptocytosis is an inherited blood disorder that causes red blood cells to be elliptical due to a cell membrane defect, leading to anemia and other symptoms. There are three subtypes, with varying degrees of severity, and treatment depends on the symptoms.
Elliptocytosis, also called ovalocytosis, is an inherited blood disorder that causes red blood cells to form abnormally. Red blood cells are usually disc-shaped with concave surfaces; in people with hereditary ovalocytosis, the cells are elliptical. This occurs due to a cell membrane defect and can lead to anemia and other symptoms.
This condition is the result of defects in the genes that code for proteins that make up the cell membranes of red blood cells. Proteins are part of what’s called the red blood cell cytoskeleton, a multi-protein molecule that provides the cell membrane with durability and flexibility. When these proteins are defective, red blood cell membranes are less resistant and less flexible. Membranes are more prone to cracking and permanently deforming.
There are three main categories of this disease: common hereditary elliptocytosis, spherocytic elliptocytosis, and Southeast Asian ovalocytosis. The latter two subtypes are rare, predominantly affecting certain ethnic groups, while the common hereditary subtype is much more common. All three subtypes are inherited autosomal, meaning that the genes causing the disorder are not on the sex chromosomes. Therefore, women and men have the same risk of inheriting genes from one parent. Also, the genes that cause the disorder are dominant, meaning that only one faulty copy of a gene is needed to cause the disease.
Although the disorder is dominantly inherited, ovalocytosis is a spectrum disorder. This means that people with this condition do not experience symptoms of 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 symptoms of elliptocytosis is hemolytic anemia, a condition in which anemia is caused by red blood cells breaking down at an abnormally high rate. This condition can cause fatigue, fainting, and jaundice, and can 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.
The appropriate treatment of elliptocytosis depends on the nature of the symptoms. Asymptomatic individuals require no treatment. Hemolytic anemia is treated with folate, which helps reduce the rate of red blood cell destruction. People with severe anemia are at increased risk for gallstones, an enlarged spleen, and infections. A diseased gallbladder or chronically enlarged spleen can be surgically removed. The spleen is only removed when absolutely necessary, however, as removal leaves the patient susceptible to bacterial blood infection.
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