What is elliptocytosis?

elliptocytosis , also called ovalocytosis , is a hereditary blood disorder that causes red blood cells to cause abnormally. Red blood cells are usually disk -shaped with concave surfaces; In people with hereditary ovalocytosis, cells are elliptical. This occurs due to the cell membrane defect and can lead to anemia and other symptoms. Proteins are part of what is called cytoskeleton red blood cells , multi-protein molecules that provide durability and flexibility. If these proteins are defective, red blood cell membranes are less resistant and less flexible. The membranes are more susceptible to breaking and permanent deformation. The last two subtypes are rare because they mainly affect certain ethnic groups, while the common hereditary subtype is much more widespread. All three subtypes are inherited in an autosomal way, which means that genes that cause disorder are not on sex chromosomes. Therefore, women haveand men of the same risk of inheriting genes from the parent. In addition, there are dominant genes that cause a disorder, which means that only one defective copies of the gene are needed for the method of disease.

Although the disorder is inherited in a dominant way, ovalocytosis is a spectrum disorder. This means that people 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, gall bladder disease or enlarged spleen.

One of the most common symptoms of elliptocytosis haemolytic anemia , a condition in which the anemia is caused by the decay of red blood cells at abnormally high speed. This can cause fatigue, fainting and jaundice and can lead to heart failure in serious cases. People with mild to severe hemolytic anemia more often experience other symptoms such as enlarged spleen diseases orAbout gallbladder.

The appropriate treatment of elliptocytosis depends on the nature of the symptoms. Individuals who are asymptomatic do not require treatment at all. Hemolytic anemia is treated with folate, helping to reduce the speed of red blood cell destruction. People with severe anemia are exposed to increased risk of gallstones, enlarged spleen and infections. A sick gallbladder or chronically enlarged spleen can be removed through surgery. However, the spleen is removed only if it is absolutely necessary because the removal leaves the patient susceptible to bacterial blood infection.