Sickle Cell Anemia
What is sickle cell anemia?
Sickle cell anemia is an inherited blood disorder most common among people of African, Latin American, Saudi Arabian, Indian, and Mediterranean descent. About 2 million Americans (1 in 12 African-Americans) carry the sickle cell trait, and about 72,000 Americans have the disease.
Sickle cell refers to the sickle (crescent) shape of affected red blood cells. Normal red blood cells are round and move smoothly through narrow blood vessels, but sickle cells get stuck and block blood flow. Anemia refers to a shortage of red blood cells. Normal red blood cells live about 120 days. Sickle cells die after 10 to 20 days and cannot be replaced fast enough, causing the shortage.
Although there is no cure for sickle cell anemia, treatment is constantly improving. Today, with proper health care, many people with sickle cell anemia are in reasonably good health much of the time and are living productive lives.
What are the symptoms?
- Hand and foot swelling and fever. This may be the first symptom in infants.
- Fatigue, paleness, and shortness of breath. These are all symptoms of anemia.
- Episodes of pain in organs or joints. These "painful crises" are the principal symptom in both children and adults.
- Eye problems. Retina damage can be serious enough to cause blindness.
- Yellow skin and eyes. These are signs of jaundice due to rapid breakdown of red blood cells.
- Delayed growth and puberty in children; a slight build in adults. This is caused by a shortage of red blood cells.
What are the complications?
- Infections. People with sickle cell anemia are more vulnerable to infections and have a harder time fighting them off. Infants and young children can be killed by bacterial infections.
- Stroke. Narrowed or blocked small blood vessels in the brain can lead to life-threatening strokes, primarily in children.
- Acute chest syndrome. Similar to pneumonia, this life-threatening complication is caused by infection or trapped sickle cells in the lung. Its symptoms are chest pain and fever.
How is it diagnosed?
More than 40 states now perform a simple, inexpensive blood test for sickle cell disease on all newborn infants. The blood test can also be performed at a later time if sickle cell anemia is suspected.
What treatments are available?
- Blood Transfusions. Transfusions increase the number of normal red blood cells, help prevent recurring strokes, and treat spleen enlargement before the condition becomes life-threatening.
- Oral Antibiotics. Giving oral penicillin to young children can prevent infection and early death.
- Hydroxyurea. Daily doses can reduce the frequency of painful crises and acute chest syndrome in adults, and may decrease the need for blood transfusions.
- Regular health maintenance. Patients should see their doctor regularly and practice proper nutrition, good hygiene, bed rest, and protection against infections.
For more information see:
Sickle Cell Disease Association of America
American Sickle Cell Association
The Sickle Cell Information Center
Information Center for Sickle Cell and Thalassemic Disorders
Ask NOAH About: Sickle Cell Disease
Sickle Cell Disease Information from the March of Dimes
MedlinePlus Information on Sickle Cell Anemia from the National Institutes of Health (NIH)
NIH Publication No. 02-2117: The Management of Sickle Cell Disease
National Heart, Lung, and Blood Institute (NHLBI)
Sickle Cell Anemia Studies at ClinicalTrials.gov
The Infant and Young Child with Sickle Cell Anemia (Washington and Texas Departments of Health)
Sickle Cell Anemia and Stroke (Washington and Texas Departments of Health)
Sources: Genetic Disease Profile: Sickle Cell Anemia (Department of Energy, Human Genome Project);
NHLBI Publication: Facts About Sickle Cell Anemia
