How is SCD diagnosed?
A blood test can check for the form of hemoglobin that is the hallmark of sickle cell disease. This blood test is a part of routine newborn screening done on all babies shortly after birth. It can be done at any age for anyone who did not have newborn screening.
SCD can also be diagnosed by genetic testing, to test for the sickle cell gene. This can even be done before a baby is born by taking a bit of the fluid in the womb for the test. If SCD runs in your family, you might talk with your doctor about genetic testing.What other tests might be done?
If your child is diagnosed with SCD, other tests might be done to check for possible complications. One common test is a special ultrasound of the brain. This is a painless test that uses sound waves to measure blood flow in the brain. The test can determine which children have a higher risk of stroke and can be done in children as young as 2 years old. If your child is at higher risk for stroke, your child's doctor might suggest regular blood transfusions to decrease the risk of stroke.
How is SCD treated?
The goal of treatment in SCD is to avoid pain episodes, relieve symptoms, and prevent complications.
These treatments include:
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Medications to lower the frequency of pain crises and decrease the need for blood transfusions. There are now 4 drugs that are approved by the FDA for this purpose. Your child's doctor can help determine which drug is best for your child.
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Folic acid supplements daily can help the bone marrow make new red blood cells.
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Medications to relieve pain during sickle cell pain crises.
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Antibiotics, such as penicillin, can be taken on a regular basis to help prevent life-threatening infections. This is especially important for children 2 months to 5 years old, or in older children and adults who have had their spleen removed.
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Vaccines - Childhood vaccines are important for preventing disease in all children. They are even more important for children with SCD because their infections can be more severe. Vaccines are also important for adults with SCD.
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Blood transfusions - Transfusions of red blood cells are used to treat and prevent complications, such as stroke. If you require regular blood transfusions, you might need treatment to reduce your iron level, because excess iron can damage your heart, liver, and other organs.
Can SCD be cured?
In general, the answer is no. However, there is one treatment currently available, which can potentially cure SCD. It is a stem cell transplant.
Stem cell transplant, also known as bone marrow transplant, involves replacing the bone marrow in a sickle cell patient with bone marrow from a healthy donor. It usually uses a matched donor, such as a sibling, who does not have SCD.
Because of the risks associated with a stem cell transplant, which can include death, the procedure is currently only recommended for people, usually children, who have significant symptoms and complications of SCD.
There is ongoing research in SCD to address stem cell transplantation and gene therapies as possible curative treatment for more patients with SCD.
What kind of lifestyle measures can help with SCD?
Here are some things that SCD patients can do at home that may help avoid complications:
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Drink plenty of water - Dehydration increases the risk of a pain crisis.
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Avoid extreme temperatures - Extreme heat or cold increases the risk of a pain crisis.
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Regular exercise is important but avoid heavy or prolonged exertion. Your doctor can help determine the right exercise routine for you.
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Don't smoke - Smoking increases your risk of a pain crisis.
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Be careful taking over-the-counter medications - Talk with your doctor before taking OTC medications due to potential damage to your kidneys.
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Dr. Anita Bennett MD - Health Tip Content Editor
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