Sickle cell disease is a genetic condition that affects red blood cells. The disease causes red blood cells to contain an abnormal type of hemoglobin and have a sickle shape, which can prevent the cells from flowing smoothly through small blood vessels. Treatment for sickle cell disease relieves symptoms but carries the risk of iron overload.
Sickle Cell Disease
In the United States, approximately 72,000 individuals live with sickle cell disease, according to the University of Maryland Medical Center (UMMC). They estimate that one in every 500 African-American infants will be diagnosed as having sickle cell disease.
Symptoms
Symptoms of sickle cell disease typically appear after an infant is approximately four months old. These symptoms can include anemia, pain, jaundice, hand-foot syndrome, growth retardation and frequent infections. The symptoms occur because the sickle cells cannot flow through blood vessels, causing blockages; the sickle cells damage the spleen, and the short lifespan of sickle cells leads to a chronic shortage of red blood cells. Over time, complications can develop, including stroke, high blood pressure, organ damage, blindness and skin ulcers.
Types
There are different types of sickle cell disease, due to variations on the sickle cell gene. Individuals with sickle cell trait carry the gene for sickle cell disease but have some normal hemoglobin; these individuals usually are asymptomatic. Sickle cell anemia is the most common and serious form of sickle cell disease; it is diagnosed when an individual's normal hemoglobin is sickle hemoglobin. Sickle cell-hemoglobin C disease and E disease tend to be milder than sickle cell anemia. The last type of sickle cell disease is hemoglobin S-beta-thalassemia, which occurs when an individual has both the genes for sickle cell and thalassemia, another inherited blood disease.
Blood Transfusions and Iron
With the exception of a bone marrow transplant, there is no cure for sickle cell disease, just treatments. Blood transfusions are a common treatment for sickle cell disease, to treat anemia, to prevent strokes or lung problems, and during pregnancy and before surgery. If performed regularly, blood transfusions do have risks. Iron is found in blood, and multiple transfusions can cause a buildup of iron in the body, causing organ damage. Individuals who receive regular blood transfusions for sickle cell anemia typically also get treatment to help reduce iron levels, in the form of an oral medication called deferasirox.
Iron Overload
Knowing about symptoms of iron overload can help reduce the risk of complications related to this issue. A serum ferritin test can help determine whether a patient is at risk of iron overload by measuring the amount of iron in the blood. A physician may want to repeat this test over the course of treatment to continue to monitor iron levels to prevent adverse effects of the condition.
References
- Sickle Cell Disease Association of America: Who is affected?
- Sickle Cell Disease Association of America: What is sickle cell disease?
- Mayo Clinic: Sickle cell anemia: Symptoms
- Mayo Clinic: Sickle cell anemia: Complications
- University of Maryland Medical Center: Sickle cell disease
- Mayo Clinic: Sickle cell anemia: Treatments and drugs
