Learn about the symptoms, causes and treatment of this inherited blood disorder that, in the United States, is more common among black people.
Sickle cell anemia is one of a group of disorders known as sickle cell disease. Sickle cell anemia is an inherited red blood cell disorder in which there aren't enough healthy red blood cells to carry oxygen throughout your body.
Normally, the flexible, round red blood cells move easily through blood vessels. In sickle cell anemia, the red blood cells are shaped like sickles or crescent moons. These rigid, sticky 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 complications associated with the disease.
Signs and symptoms of sickle cell anemia usually appear around 5 months of age. They vary from person to person and change over time. Signs and symptoms can include:
Anemia. Sickle cells break apart easily and die, leaving you with too few 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 enough oxygen, causing fatigue.
Episodes of pain. Periodic episodes of pain, called pain 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 crises a year. Others have a dozen or more pain crises a year. A severe pain crisis requires a hospital stay.
Some adolescents and adults with sickle cell anemia also have chronic pain, which can result from bone and joint damage, ulcers, and other causes.
Sickle cell anemia is usually diagnosed in infancy through newborn screening programs. If you or your child develops any of the following problems, see your doctor right away or seek emergency medical care:
Sickle cell anemia is caused by a mutation in the gene that tells your body to make the iron-rich compound that makes blood red and enables red blood cells to carry oxygen from your lungs throughout your body (hemoglobin). In sickle cell anemia, the abnormal hemoglobin causes red blood cells to become rigid, sticky and misshapen.
Both mother and father must pass the defective form of the gene for a child to be affected.
If only one parent passes the sickle cell gene to the child, that child will have the sickle cell trait. With one normal hemoglobin gene and one defective form of the gene, people with the sickle cell trait make both normal hemoglobin and sickle cell hemoglobin.
Their blood might contain some sickle cells, but they generally don't have symptoms. They're carriers of the disease, however, which means they can pass the gene to their children.
For a baby to be born with sickle cell anemia, both parents must carry a sickle cell gene. In the United States, sickle cell anemia most commonly affects black people.
Sickle cell anemia can lead to a host of complications, including:
If you carry the sickle cell trait, seeing a genetic counselor before trying to conceive can help you understand your risk of having a child with sickle cell anemia. They can also explain possible treatments, preventive measures and reproductive options.
A blood test can check for the defective form of hemoglobin that underlies sickle cell anemia. In the United States, this blood test is part of routine newborn screening. 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 the defective hemoglobin.
If you or your child has sickle cell anemia, 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.
Using a special ultrasound machine, 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 in children as young as 2 years. Regular blood transfusions can decrease stroke risk.
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). If you or your partner has sickle cell anemia or the sickle cell trait, ask your doctor about this screening.
Management of sickle cell anemia is usually aimed at avoiding pain episodes, relieving symptoms and preventing complications. Treatments might include medications and blood transfusions. For some children and teenagers, a stem cell transplant might cure the disease.
Children with sickle cell anemia might receive penicillin between the ages of about 2 months old until at least age 5. Doing so helps prevent infections, such as pneumonia, which can be life-threatening to children with sickle cell anemia.
Adults who have sickle cell anemia may need to take penicillin throughout their lives, if they've had pneumonia or surgery to remove the spleen.
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 child's doctor will ensure that your child receives all of the recommended childhood vaccinations, as well vaccines against pneumonia and meningitis and an annual flu shot. Vaccines 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 through a vein to a person with sickle cell anemia. This increases the number of normal red blood cells, which helps reduce symptoms and complications.
Risks include an immune response to the donor blood, which can make it hard to find future donors; infection; and excess iron buildup in your body. Because excess iron can damage your heart, liver and other organs, if you undergo regular transfusions, you might need treatment to reduce iron levels.
Stem cell transplant. Also known as bone marrow transplant, this procedure 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.
Because of the risks associated with a bone marrow transplant, the procedure is recommended only for people, usually children, who have significant symptoms and complications of sickle cell anemia.
The procedure requires a long 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.
Taking the following steps to stay healthy may help you avoid complications of sickle cell anemia:
If you or someone in your family has sickle cell anemia, you might want help coping. Consider:
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.
Make a list of:
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:
Don't hesitate to ask other questions.
Your doctor is likely to ask you questions, including:
July 17th, 2021