Sickle cell anemia: An inherited form of anemia

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Sickle cell anemia: An inherited form of anemia

By
Dana Sparks

March 6, 2017

medical illustration of red blood cell and abnormally shaped red sickle cells

Sickle cell anemia is an inherited form of anemia — a condition in which there aren't enough healthy red blood cells to carry adequate oxygen throughout your body.

Normally, your red blood cells are flexible and round, moving easily through your blood vessels. In sickle cell anemia, the red blood cells become rigid and sticky and are shaped like sickles or crescent moons. These irregularly shaped cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.

There's no cure for most people with sickle cell anemia. But treatments can relieve pain and help prevent problems associated with the disease.

Symptoms and Causes

Signs and symptoms of sickle cell anemia, which vary from person to person and change over time, include:

Anemia. Sickle cells break apart easily and die, leaving you without enough red blood cells. Red blood cells usually live for about 120 days before they need to be replaced. But sickle cells usually die in 10 to 20 days, leaving a shortage of red blood cells (anemia).Without enough red blood cells, your body can't get the oxygen it needs to feel energized, causing fatigue.
Episodes of pain. Periodic episodes of pain, called crises, are a major symptom of sickle cell anemia. Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to your chest, abdomen and joints. Pain can also occur in your bones. The pain varies in intensity and can last for a few hours to a few weeks. Some people have only a few pain episodes. Others have a dozen or more crises a year. If a crisis is severe enough, you might need to be hospitalized. Some adolescents and adults with sickle cell anemia also have chronic pain, which can result from bone and joint damage, ulcers and other causes.
Painful swelling of hands and feet. The swelling is caused by sickle-shaped red blood cells blocking blood flow to the hands and feet.
Frequent infections. Sickle cells can damage the spleen, an organ that fights infection, leaving you more vulnerable to infections. Doctors commonly give infants and children with sickle cell anemia vaccinations and antibiotics to prevent potentially life-threatening infections, such as pneumonia.
Delayed growth. Red blood cells provide your body with the oxygen and nutrients you need for growth. A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in teenagers.
Vision problems. Tiny blood vessels that supply your eyes may become plugged with sickle cells. This can damage the retina — the portion of the eye that processes visual images, leading to vision problems.

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.