Diagnosis

A blood test can check for hemoglobin S — the defective form of hemoglobin that underlies sickle cell anemia. In the United States, this blood test is part of routine newborn screening done at the hospital. But older children and adults can be tested, too.

In adults, a blood sample is drawn from a vein in the arm. In young children and babies, the blood sample is usually collected from a finger or heel. The sample is then sent to a laboratory, where it's screened for hemoglobin S.

If the screening test is negative, there is no sickle cell gene present. If the screening test is positive, further tests will be done to determine whether one or two sickle cell genes are present.

Additional tests

If you or your child has sickle cell anemia, a blood test to check for a low red blood cell count (anemia) will be done. Your doctor might suggest additional tests to check for possible complications of the disease.

If you or your child carries the sickle cell gene, you'll likely be referred to a genetic counselor.

Tests to detect sickle cell genes before birth

Sickle cell disease can be diagnosed in an unborn baby by sampling some of the fluid surrounding the baby in the mother's womb (amniotic fluid) to look for the sickle cell gene. If you or your partner has been diagnosed with sickle cell anemia or sickle cell trait, ask your doctor about whether you should consider this screening. Ask for a referral to a genetic counselor who can help you understand the risk to your baby.

Treatment

Bone marrow transplant, also known as stem cell transplant, offers the only potential cure for sickle cell anemia. It's usually reserved for people younger than age 16 because the risks increase for people older than 16. Finding a donor is difficult, and the procedure has serious risks associated with it, including death.

As a result, treatment for sickle cell anemia is usually aimed at avoiding crises, relieving symptoms and preventing complications. Babies and children age 2 and younger with sickle cell anemia should make frequent visits to a doctor. Children older than 2 and adults with sickle cell anemia should see a doctor at least once a year, according to the Centers for Disease Control and Prevention.

Treatments might include medications to reduce pain and prevent complications, and blood transfusions, as well as a bone marrow transplant.

Medications

Medications used to treat sickle cell anemia include:

  • Antibiotics. Children with sickle cell anemia may begin taking the antibiotic penicillin when they're about 2 months old and continue taking it until they're at least 5 years old. Doing so helps prevent infections, such as pneumonia, which can be life-threatening to an infant or child with sickle cell anemia.

    As an adult, if you've had your spleen removed or had pneumonia, you might need to take penicillin throughout your life.

  • Pain-relieving medications. To relieve pain during a sickle cell crisis, your doctor might prescribe pain medications.
  • Hydroxyurea (Droxia, Hydrea). When taken daily, hydroxyurea reduces the frequency of painful crises and might reduce the need for blood transfusions and hospitalizations. Hydroxyurea seems to work by stimulating production of fetal hemoglobin — a type of hemoglobin found in newborns that helps prevent the formation of sickle cells.

    Hydroxyurea increases your risk of infections, and there is some concern that long-term use of this drug might cause problems later in life for people who take it for many years. More study is needed.

    Your doctor can help you determine if this drug might be beneficial for you or your child. Don't take the drug if you're pregnant.

Assessing stroke risk

Using a special ultrasound machine (transcranial), doctors can learn which children have a higher risk of stroke. This painless test, which uses sound waves to measure blood flow, can be used on children as young as 2 years. Regular blood transfusions can decrease stroke risk.

Vaccinations to prevent infections

Childhood vaccinations are important for preventing disease in all children. They're even more important for children with sickle cell anemia because their infections can be severe.

Your doctor will make sure your child receives all of the recommended childhood vaccinations. Vaccinations, such as the pneumococcal vaccine and the annual flu shot, are also important for adults with sickle cell anemia.

Blood transfusions

In a red blood cell transfusion, red blood cells are removed from a supply of donated blood, 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 decrease the risk. Transfusions can also be used to treat other complications of sickle cell anemia, or they can be given to prevent complications.

Blood transfusions carry some risk, including infection and excess iron buildup in your body. Because excess iron can damage your heart, liver and other organs, people who undergo regular transfusions might need treatment to reduce iron levels.

Bone marrow transplant

A bone marrow transplant, also called a stem cell transplant, involves replacing bone marrow affected by sickle cell anemia with healthy bone marrow from a donor. The procedure usually uses a matched donor, such as a sibling, who doesn't have sickle cell anemia. For many, donors aren't available. But stem cells from umbilical cord blood might be an option.

Because of the risks associated with a bone marrow transplant, the procedure is recommended only for people, usually children, who have significant symptoms and problems from sickle cell anemia.

If a donor is found, the person with sickle cell anemia receives radiation or chemotherapy to destroy or reduce his or her bone marrow stem cells. Healthy stem cells from the donor are injected intravenously into the bloodstream of the person with sickle cell anemia, where they migrate to the bone marrow and begin generating new blood cells.

The procedure requires a lengthy hospital stay. After the transplant, you'll receive drugs to help prevent rejection of the donated stem cells. Even so, your body might reject the transplant, leading to life-threatening complications.

Treating sickle cell complications

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

Experimental treatments

Scientists are studying new treatments for sickle cell anemia, including:

  • Gene therapy. Researchers are exploring whether inserting a normal gene into the bone marrow of people with sickle cell anemia will result in 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.

    Potential treatments using gene therapy are a long way off, however.

  • Nitric oxide. People with sickle cell anemia have low levels of nitric oxide in their blood. Nitric oxide is a gas that helps keep blood vessels open and reduces the stickiness of red blood cells. Treatment with inhaled nitric oxide might prevent sickle cells from clumping together. Studies on nitric oxide have shown little benefit so far.
  • Drugs to boost fetal hemoglobin production. Researchers are studying various drugs to devise a way to boost the production of fetal hemoglobin. This is a type of hemoglobin that stops sickle cells from forming.

Lifestyle and home remedies

Taking the following steps to stay healthy may help you avoid complications of sickle cell anemia:

  • Take folic acid supplements daily, and choose a healthy diet. Bone marrow needs folic acid and other vitamins to make new red blood cells. Your doctor might recommend a folic acid supplement. Choose a diet that focuses on a variety of colorful fruits and vegetables, as well as whole grains.
  • Drink plenty of water. Dehydration can increase your risk of a sickle cell crisis. Drink water throughout your day, aiming for about eight glasses a day. Increase the amount of water you drink if you exercise or spend time in a hot, dry climate.
  • Avoid temperature extremes. Exposure to extreme heat or cold can increase your risk of a sickle cell crisis.
  • Exercise regularly, but don't overdo it. Talk with your doctor about how much exercise is right for you.
  • Use over-the-counter (OTC) medications with caution. Use OTC pain medications, such as ibuprofen (Advil, Motrin IB, Children's Motrin, others) or naproxen sodium (Aleve) sparingly, if at all, because of the possible effect on your kidneys. Ask your doctor before taking OTC drugs.

Coping and support

If you or someone in your family has sickle cell anemia, you may want help with the stresses of this lifelong disease. Consider:

  • Finding someone to talk with. Sickle cell centers and clinics can provide information and counseling. Ask your doctor or the staff at a sickle cell center if there are support groups for families in your area. Talking with others who are facing the same challenges you are can be helpful.
  • Exploring ways to cope with the pain. Work with your doctor to find ways to control your pain. Pain medications can't always take all the pain away. Different techniques work for different people, but it might be worth trying heating pads, hot baths, massages or physical therapy.
  • Learning about sickle cell anemia to make informed decisions about care. If you have a child with sickle cell anemia, learn as much as you can about the disease. Ask questions during your child's appointments. Ask your health care team to recommend good sources of information.

Preparing for your appointment

Sickle cell anemia is usually diagnosed through genetic screening done when a baby is born. Those test results will likely be given to your family doctor or pediatrician. He or she will likely refer you to a doctor who specializes in blood disorders (hematologist) or a pediatric hematologist.

Here's information to help you get ready for your appointment.

What you can do

Make a list of:

  • Symptoms you've noticed, including any that seem unrelated to the reason for which you scheduled the appointment
  • Key personal information, including family medical history and whether anyone has sickle cell anemia or has a trait for it
  • Questions to ask your doctor

Bring a family member or friend along, if possible, to help you remember the information you're given.

For sickle cell anemia, questions to ask your doctor include:

  • What's the most likely cause of my child's symptoms?
  • Are there other possible causes?
  • What tests are needed?
  • What treatments are available and which do you recommend?
  • What side effects are common with these treatments?
  • Are there alternatives to the primary approach that you're suggesting?
  • What's my child's prognosis?
  • Are there dietary or activity restrictions?
  • Do you have brochures or other printed material that I can have? What websites do you recommend?

Don't hesitate to ask other questions.

What to expect from your doctor

Your doctor is likely to ask you questions, including:

  • When did you notice your child's symptoms?
  • Have they been continuous or occasional?
  • What, if anything, seems to improve symptoms?
  • What, if anything, seems to worsen them?
Dec. 29, 2016
References
  1. Vichinsky EP. Overview of the clinical manifestations of sickle cell disease. http://www.uptodate.com/home. Accessed Nov. 6, 2016.
  2. Sickle cell disease. National Heart, Lung, and Blood Institute. http://www.nhlbi.nih.gov/health/health-topics/topics/sca/. Accessed Nov. 6, 2016.
  3. Field JJ , et al. Overview of the management and prognosis of sickle cell disease. http://www.uptodate.com/home. Accessed Nov. 6, 2016.
  4. Iughetti L, et al. Novel insights in the management of sickle cell disease in childhood. World Journal of Clinical Pediatrics. 2016;5:25.
  5. Living well with sickle cell disease. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/sicklecell/healthyliving-living-well.html. Accessed Nov. 6, 2016.
  6. Estcourt LJ, et al. Red blood cell transfusion to treat or prevent complications in sickle cell disease: An overview of Cochrane reviews. Cochrane Database of Systematic Reviews. http://onlinelibrary.wiley.com/doi/10.1002/14651858.CD012082/full. Accessed Nov. 6, 2016.
  7. Rodgers GP. Hydroxyurea and other disease-modifying therapies in sickle cell disease. http://www.uptodate.com/home. Accessed Nov. 6, 2016.
  8. AskMayoExpert. Sickle cell disease. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2016.