What is it?
Sickle cell anemia is an inherited disorder of the blood that results in the formation of abnormal or defective hemoglobin (hemoglobin S). Hemoglobin is the substance in red blood cells responsible for transporting oxygen to the body’s tissues and organs. A person with sickle cell disease develops an anemia or low red blood cell count and a number of problems in the body can occur.
Normal red blood cells are round and pliable, but in persons with sickle cell anemia these cells become firm and inflexible. They can’t maneuver through small blood vessels and capillaries. They take on a crescent or sickle shape. Tissues of the body can’t get the oxygen they require.The spleen is an organ in the upper abdomen responsible for removing red blood cells that have completed their normal life cycle (about 120 days). The red cells of sickle cell patients are recognized by the spleen as being abnormal and are removed from the circulation. The bone marrow which produces red blood cells may not be able to produce enough new cells to keep up with the destruction and anemia can develop.
Who is affected?
The disease is found in several million people world wide and most commonly their ancestors are from Africa, the Middle East and the Mediterranean. One theory is that this alteration in the red blood cell may have helped protect against malaria. In the U.S. sickle cell anemia affects about 80,000 African-Americans.When both parents pass on the recessive hemoglobin S gene the child of those parents will have the disease. The child will be a carrier of the trait if only one gene from the parents is transmitted.
Symptoms of Sickle Cell Anemia
Symptoms of the disease can develop in early childhood and there is a wide spectrum of severity which can vary from patient to patient. Problems can include pain in the extremities and chest, fever, jaundice, gallstones, enlarged spleen, infections of the skin, lungs, blood, etc. Sickle cell anemia can also cause an acute crisis when abnormal red blood cells block blood vessels and severe pain can develop. The severity of the crisis depends on which blood vessels are blocked and what type of tissue is being deprived of oxygen.
Prevention
Various lab tests can determine if a person carries the sickle cell trait. This is critical information if two people with the trait plan to marry and have children.
Treatment
Persons with the disease need to be closely followed by their physician. They are prone to infections and stressful situations such a pregnancy, surgery or illnesses may exacerbate the disease and symptoms.In the past treatment consisted of palliative therapy with pain relievers and folic acid supplements. Now some patients are being treated with hydroxyurea which can reduce the frequency of attacks.Bone marrow transplant may also be an option in a select number of younger patients. As time goes on this may be applicable to a larger number of patients.At the current time there is no known cure but medical researchers continue to make progress. Support chapters are available in various cities.
For more information the Sickle Cell Disease Association of America can be contacted at 800 421-8453.
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