Sickle Cell Disease

When a child is born with sickle cell disease, no one can predict which symptoms will appear, when they will start, or how bad they will be.

Painful events (sickle cell crises) in the hands or feet, belly, back, or chest are the most common symptom of sickle cell disease. They are periods of pain that happen when sickled cells get stuck in blood vessels and block the blood flow. This pain may last from hours to days.

Most people with sickle cell disease are anemic. Anemia can make you feel weak and tired. People with sickle cell anemia may look pale or washed out. They may be short of breath. Their skin and the whites of their eyes may have a yellowish look (jaundice).

Sickle cell disease is diagnosed when initial blood tests show abnormal hemoglobin. A sickle cell test looks for sickle cell trait and sickle cell disease.

The disease can be diagnosed soon after birth. A sample of blood is taken from the infant's heel. It's sent to a lab. There it is screened for the presence of sickle cell hemoglobin (hemoglobin S).

The disease may also be diagnosed based on the problems it can cause. More testing may be done if needed.

Doctors can diagnose sickle cell disease before a child is born (prenatally). Prenatal tests include amniocentesis and chorionic villus sampling (CVS).

Couples who are at risk for passing on this disease to their children may want to talk with a genetic counselor about prenatal testing before getting pregnant.

When a child is born with sickle cell disease, it's impossible to predict which problems will develop, when they will start, or how bad they will be. During the first 6 months of life, infants have a high level of fetal hemoglobin (HbF) in their blood, which protects them from red blood cell sickling. But dangerous complications of sickle cell disease may quickly develop between ages 6 months and 5 years, after levels of fetal hemoglobin decrease.

Older children and adults with sickle cell disease may have few problems. Or they may have a pattern of ongoing complications that shortens their lives. The most common and serious problems caused by sickle cell disease are anemia, pain, and organ failure.

Medical treatment can help you manage pain and avoid other health problems from sickle cell disease.

Early treatment includes daily antibiotics from 2 months to 5 years of age to help prevent infections. Routine childhood and adult immunizations are also important. Your doctor may also suggest you take folic acid supplements.

Medicines that treat sickle cell disease include hydroxyurea and pain medicines. You may need a prescription for some of the medicines. Others you can buy over-the-counter. Pain medicine may work best when you also do other things to manage pain. You can prepare for painful events ahead of time by creating a pain management plan with your doctor.

Some people need regular blood transfusions to lower the risk of stroke and to treat anemia and other problems. Some people take prescription medicine, such as L-glutamine (Endari), to prevent problems. In rare cases, a stem cell transplant might be an option.