What is sickle cell anemia?

Sickle cell anemia (sickle cell disease) is a disorder of the blood caused by an inherited abnormal hemoglobin (an oxygen-carrying protein within the red blood cells). The abnormal hemoglobin causes distorted (sickled) red blood cells. The sickled red blood cells are fragile and prone to rupture. When the number of red blood cells decreases from rupture (hemolysis), anemia is the result. This condition is referred to as sickle cell anemia. The irregular sickled cells can also block blood vessels causing tissue and organ damage and pain.

Causes, incidence, and risk factors Sickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin is a protein inside red blood cells that carries oxygen. Hemoglobin S changes the shape of red blood cells, especially when the cells are exposed to low oxygen levels. The red blood cells become shaped like crescents or sickles. The fragile, sickle-shaped cells deliver less oxygen to the body's tissues. They can also get stuck more easily in small blood vessels, and break into pieces that interupt healthy blood flow.

Sickle cell anemia is inherited from both parents. If you inherit the hemoglobin S gene from one parent and normal hemoglobin (A) from your other parent, you will have sickle cell trait. People with sickle cell trait do not have the symptoms of sickle cell anemia. Sickle cell disease is much more common in people of African and Mediterranean descent. It is also seen in people from South and Central America, the Caribbean, and the Middle East. Almost all patients with sickle cell anemia have painful episodes (called crises), which can last from hours to days. These crises can affect the bones of the back, the long bones, and the chest. Some patients have one episode every few years. Others have many episodes per year. The crises can be severe enough to require a hospital stay. Common symptoms include:
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Attacks of abdominal pain Bone pain Breathlessness Delayed growth and puberty Fatigue Fever Paleness Rapid heart rate Ulcers on the lower legs (in adolescents and adults) Yellowing of the eyes and skin (jaundice)

Other symptoms include:

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Chest pain Excessive thirst Frequent urination Dark/bloody urine Painful and prolonged erection (priapism - occurs in 10 - 40% of men with the disease) Poor eyesight/blindness Strokes Skin ulcers

Signs and tests Tests commonly performed to diagnose and monitor patients with sickle cell anemia include:
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Complete blood count (CBC) Hemoglobin electrophoresis-measures the different types of the oxygen-carrying protein (hemoglobin) in the blood. Sickle cell test- looks for the abnormal hemoglobin in the blood that causes sickle cell anemia.

Other tests may include:

Bilirubin-a yellowish pigment found in bile, a fluid made by the liver. Large amounts of bilirubin in the blood can lead to jaundice. Jaundice is a yellow color in the skin, mucus membranes, or eyes. Jaundice is the most common reason to check bilirubin levels.
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Blood oxygen

CT scan or MRI Peripheral smear-A blood smear is a blood test that gives information about the number and shape of blood cells. y Serum creatinine-The test is done to evaluate kidney function by injecting creatinine into the blood. y Serum hemoglobin- measures the level of free hemoglobin in the liquid part of the blood (the serum). Free hemoglobin is the hemoglobin outside of the red blood cells. Most of the hemoglobin is found inside the red blood cells, not in the serum. y Serum potassium y Urinary casts or blood in the urine y White blood cell count Treatment The goal of treatment is to manage and control symptoms, and to limit the number of crises. Patients with sickle cell disease need ongoing treatment, even when they are not having a painful crisis. Folic acid supplements should be taken. Folic acid is needed to make red blood cells. Treatment for a sickle cell crisis includes:
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Blood transfusions (may also be given regularly to prevent stroke) Pain medicines Plenty of fluids

Other treatments for sickle cell anemia may include:

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Hydroxyurea (Hydrea), a medicine that may help reduce the number of pain episodes (including chest pain and difficulty breathing) in some people Antibiotics to prevent bacterial infections, which are common in children with sickle cell disease

Treatments for complications of sickle cell anemia may include:

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Kidney dialysis or kidney transplant for kidney disease Drug rehabilitation and counseling for psychological complications Gallbladder removal in those with gallstone disease Hip replacement for avascular necrosis of the hip Treatments, including surgery, for persistent, painful erections (priapism) Surgery for eye problems

Wound care, zinc oxide, or surgery for leg ulcers

Bone marrow or stem cell transplants can cure sickle cell anemia. However, they are current not an option for most patients. Sickle cell anemia patients are often unable to find well-matched donors.