Where Can Sickle Cell Anemia Be Found?

Sickle cell anemia is a genetic condition of the blood that causes a specific form of anemia. The disease centers on the abnormal production of red blood cells and is caused by an inheritable mutation. Because of this inheritable component, sickle cell anemia is found more often in certain demographic groups. The disease's characteristic symptoms, certain medical tests and family medical history are used to diagnose the condition.

Aspects

• Sickle cell anemia is a blood disorder in which the majority of circulating red blood cells have an abnormal, crescent-moon (or sickle) shape instead of the round, highly flexible shape of normal red blood cells. This abnormal shape prevents them from moving through the vessels of the circulatory system easily, so they can get stuck, preventing adequate amounts of blood -- and therefore, oxygen -- from reaching portions of the body.

Causes

• The production of the sickle-shaped red blood cells characterized in sickle cell anemia is directly caused by a genetic mutation in the DNA that codes for the hemoglobin present in every red blood cell. Because the hemoglobin is produced abnormally, the shape of the entire blood cell is altered. While this mutation can, in rare instances, be the result of DNA damage, in the majority of cases it is inherited from two parents that both carry the hemoglobin mutation.

At-Risk Groups

• Sickle cell anemia is found predominantly in certain ethnic groups. These include African-Americans, Hispanics, Indians, people of Middle Eastern ancestry, Africans and those with Mediterranean roots. Because people from these groups are more likely to carry the sickle cell mutation, they are more likely to have children that suffer from the disease from inheriting two sets of the defective gene.

Symptoms

• The symptoms of sickle cell anemia can begin as early as 4 months old. The initial symptoms include swollen hands and feet and jaundice. People with the disease will become anemic and suffer from bouts of severe fatigue. When the abnormally shaped blood cells become stuck in blood vessels, the sufferer may also have episodes of extreme pain in the location of the blockage. Persistent vision problems, a tendency to become ill with infections and delayed childhood and adolescent development are also all symptoms of the condition.

Diagnosis

• The characteristic symptoms of the conditions are usually the first indication that sickle cell anemia is present. To definitively diagnose the disease, however, a blood test that checks for the presence of the defective form of hemoglobin -- called hemoglobin S -- is performed. If this test reveals the presence of hemoglobin S, further, more specialized blood tests are conducted to determine the extent of the disease and whether the individual has inherited two copies of the mutation or only one.