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Sickle cell anemia - Sickle cell disease (SCD)
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Sickle cell anemia - Sickle cell disease (SCD)

It's a disease of the blood that gets its name because sickle cells look like a farm tool called a sickle. Sickle cell disease (SCD) and its variants are genetic disorders of mutant hemoglobin's.

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HEART & BLOOD

Anemia

Treatment

There's no cure for sickle cell anemia, but your doctor can help you or your child live with the disorder, and treatments are improving. People with sickle cell anemia may require treatment from specialists at a hospital or a sickle cell anemia clinic. Regular visits to your doctor are a routine part of treatment. Treatment may include drugs to reduce pain and prevent complications, blood transfusions, supplemental oxygen and bone marrow transplants.

Medications
Medications used to treat sickle cell anemia include:

  • Antibiotics. Children with sickle cell anemia need to start taking the antibiotic penicillin twice a day when they reach 2 to 3 months of age and continue until they're 5 or 6 years old. Doing so helps prevent infections such as pneumonia, which can be life-threatening to an infant or child with sickle cell anemia. Antibiotics may also help adults with sickle cell anemia fight certain infections.

  • Pain-relieving medications. To relieve pain during a sickle crisis, your doctor may advise over-the-counter pain relievers and application of warm heat to the affected area. Sometimes, you may need stronger prescription painkillers.

  • Hydroxyurea (Droxia, Hydrea). This prescription drug, normally used to treat leukemia, treats sickle cell anemia directly. A study reported in the April 2, 2003, issue of the Journal of the American Medical Association reported that people with sickle cell anemia who took hydroxyurea over a nine-year period experienced a 40-percent reduction in deaths. The studied included 299 adults who had moderate to severe sickle cell anemia. Hydroxyurea appears to stimulate production of fetal hemoglobin — a type of hemoglobin found in newborns. Fetal hemoglobin helps prevent the formation of sickle cells.

Blood transfusions
Doctors sometimes use blood transfusions to treat sickle cell anemia.

In a blood transfusion, red blood cells are removed from a supply of donated blood. These donated cells are then given intravenously to a person with sickle cell anemia.

Blood transfusions increase the number of normal red blood cells in circulation, helping to relieve anemia. In children with sickle cell anemia at high risk of stroke, regular blood transfusions can cut the risk of a first or second stroke by up to 90 percent.

Blood transfusions carry some risk. Blood contains the mineral iron. Regular blood transfusions cause an excess amount of iron to build up in your body. Because excess iron can damage your heart, liver and other organs, people who undergo regular transfusions must often receive treatment to reduce iron levels.

Supplemental oxygen
You may be given oxygen through a breathing mask during a sickle crisis or with acute chest syndrome. Breathing in supplemental oxygen adds oxygen to your blood and helps you breathe easier.

Bone marrow transplant
Rarely, sickle cell anemia is successfully treated with a bone marrow transplant. The procedure replaces sickle cells with healthy bone marrow and red blood cells from a donor. Researchers are still studying bone marrow transplants for use in people with sickle cell anemia. Currently, the procedure is appropriate only for people who have significant symptoms and problems from sickle cell anemia.

In a bone marrow transplant, your bone marrow is first destroyed using chemotherapy or radiation. A matched donor's healthy bone marrow is removed through a minor surgical technique. You then receive a transfusion of that healthy marrow, and the healthy marrow may start producing normal blood cells. Sometimes, however, the transplant doesn't work or the recipient's body rejects the new marrow.

The procedure requires a lengthy hospital stay. After the transplant, you'll need drugs to help prevent rejection of the donated marrow.

Experimental treatments
In the past 30 years, scientists have gained insights into the symptoms and causes of sickle cell anemia. New information about the disease is leading to newer treatments. Researchers are studying:

  • Gene therapy. Because sickle cell anemia is caused by a defective gene, researchers are exploring whether correcting this gene and inserting it into the bone marrow of people with sickle cell anemia will result in the production of normal hemoglobin. Scientists are also exploring the possibility of turning off the defective gene while reactivating another gene responsible for the production of fetal hemoglobin — a type of hemoglobin found in newborns that prevents sickle cells from forming.

  • Butyrate. A commonly used food additive, butyrate may increase the amount of fetal hemoglobin in the blood.

  • Clotrimazole. Normally used to treat fungal infections, this over-the-counter medication helps prevent a loss of water from red blood cells, which may reduce the number of sickle cells that form.

  • Nitric oxide. People with sickle cell anemia have low levels of nitric oxide, a gas that helps keep blood vessels open and reduces the stickiness of red blood cells. Treatment with nitric oxide may prevent sickle cells from forming.

Treating complications
Doctors treat most complications of sickle cell anemia as they occur. Treatment may include antibiotics, blood transfusions, pain-relieving medicines, other medications and possibly surgery, such as to correct vision problems or to remove a damaged spleen.

Prevention

Before trying to conceive a child, you may decide to undergo genetic counseling if you carry the sickle cell trait.

An in vitro fertilization procedure is available that improves the chances that parents who each carry the sickle cell gene will have a child with normal hemoglobin. In the procedure, eggs are taken from the mother. Sperm is taken from the father. In a laboratory, the eggs are fertilized with the sperm. The fertilized eggs are then tested for the presence of the sickle cell gene. This procedure is known as preimplantation genetic diagnosis. Fertilized eggs free of the sickle cell gene can be implanted into the mother for normal development. However, this procedure is expensive and not always successful.

Self-care

Taking steps to stay healthy is critical for anyone with sickle cell anemia. Good nutrition, adequate rest and protection against infections all are important to maintain good health.

Infants and children with sickle cell disease need to receive regular childhood vaccinations. Children and adults with sickle cell anemia also should have a yearly flu shot and be immunized against pneumonia.

To help stay healthy, follow these suggestions if you have sickle cell anemia:

  • Take folic acid supplements daily and eat a well-balanced diet. Bone marrow needs folic acid and other vitamins to make new red blood cells.

  • Drink plenty of water. Staying hydrated helps keep your blood diluted, which reduces the chance that sickle cells will form.

  • Avoid temperature extremes. Exposure to extreme heat or cold can trigger the formation of sickle cells.

  • Avoid stress. Stress can trigger a sickle crisis.

  • Exercise regularly. But don't overdo it. Talk with your doctor about how much exercise is right for you.

  • Fly on commercial airplanes with pressurized passenger cabins. Unpressurized aircraft cabins don't provide enough oxygen. Low oxygen levels can trigger a sickle crisis.

Coping skills

If you or someone in your family has sickle cell anemia, you may need help handling the stresses of coping with this lifelong disease.

Your doctor can talk with you about your concerns. Sickle cell centers and clinics also can provide information and counseling. Many areas have sickle cell support groups for families affected by the disease.

The best way to help a child with sickle cell anemia is to learn as much as you can about the disease and to make sure the child gets the best health care possible. A child with sickle cell disease has special needs and requires regular medical care to stay as healthy as possible. Your doctor can explain how often to bring your child for medical care and what you can do if he or she becomes ill.

 

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Last Modified : 03/14/08 06:50 PM