Spherocytosis Causes

Spherocytosis is a form of hemolytic anemia, a disorder in which the body destroys its own red blood cells, removing them from the bloodstream prematurely. There are two basic types of spherocytosis, hereditary and acquired. Both result in the production of abnormal red blood cells and are treated in a similar manner.

The Disorder

• Spherocytosis is a blood disorder that is characterized by the production of abnormally shaped red blood cells. Regular red blood cells are shaped like an inner tube of sorts, though they are concave, rather than hollow, in the center. When a person has spherocytosis, the membrane that covers the red blood cells is defective, causing the cells to be spherical in shape, rather than curved in. Cells with this form are unusually fragile, but they still are capable of functioning within the circulatory system. It is only when they reach the spleen that the problems begin to develop. The spleen cannot recognize the malformed red blood cells and therefore destroys them. This process reduces the available red blood supply within the body and can produce a number of troublesome symptoms such as fatigue, gallstones, jaundice, arrhythmia, enlarged heart and heart failure.

Genetics

• Hereditary spherocytosis is genetic. This means it is passed to offspring from their parents. Caused by a recessive gene, many parents aren't even aware that they carry the defect until their children develop the disorder. The hereditary form of this disorder is distinguished by a deficiency of spectrin. Spectrin is one of the central proteins found on the interior of the membrane of a red blood cell. Its main function is to build and maintain the shape of the cell's cytoskeleton. Without a sufficient supply of spectrin, the shape of the cell becomes distorted resulting in spherocytosis. Hereditary spherocytosis is the most common form of hemolytic anemia found in populations of northern European descent, but can be found to some degree among all ethnic groups.

Environment

• Spherocytosis is not always inherited. Under certain circumstances, a person who is born with normal red blood cells may begin to manufacture abnormal ones. For example, people who take certain anti-malarial medications for an extended period of time or who have unknowingly ingested naphthalene may being to manufacture spherical red blood cells as a result of the exposure to toxins. In situations such as these, spherocytosis develops as an acquired disorder.

Sings & Symptoms

• A person with spherocytosis may exhibit a notable yellowing of the eyes and develop a yellow skin tone. They may also display an unhealthy pallor or pale coloring and an overall lack of pigment in the mucous membranes or areas with very thin skin, such as the lips. Also, while it will not be noticeable to the average person, a medical professional will generally be able to detect the presence of an enlarged spleen. The disorder can develop gradually or abruptly and symptoms can range in expression from mild to critical.

Outlook

• The treatment given to a spherocytosis patient will depend on the severity of the symptoms. In most cases the disorder can be successfully treated and controlled. Mild cases may require no additional treatment beyond frequent monitoring. Severe cases require the removal of the spleen and possible red blood cell transfusions. However, once the spleen has been removed, many patients return to their normal state of health. The abnormal blood cells are still in circulation throughout their system, but the complications created by the spleen attacking them have been resolved.