Sickle cell anemia is an inherited blood disorder that can lead to serious complications in babies and children. The good news: Early diagnosis and treatment can protect kids’ health so they can feel their best and do the things they love.
Here's what parents should know about sickle cell anemia and other types of sickle cell disease (SCD) in young children.
What is sickle cell anemia?
Sickle cell anemia is a congenital form of anemia, and the most common type of sickle cell disease. It’s the most common inherited blood disorder in the U.S., affecting around 2,000 babies annually.
Normally, red blood cells are flexible and round, but when children have sickle cell anemia, these cells become stiff, sticky and fragile, and their appearance is crescent-shaped (or in the shape of the letter “C”). This type of cell gets stuck in the small blood vessels, blocking blood flow and slowing or depriving the body of oxygen.
Red blood cells of people with sickle cell anemia only live for 7 to 20 days, compared to 120 days for red blood cells of healthy people. This shortened lifespan means the body has trouble replacing red blood cells, which can result in anemia.
Sickle cell anemia can also cause episodes of intense pain that last for hours or days and increase the risk for complications like organ damage, serious infections or stroke.
Types of sickle cell disease
There are four main forms of sickle cell disease, and some types are more severe than others. Which kind a child has depends on which sickle cell genes were inherited from her parents, and whether the genes were inherited from one parent or both.
- Hemoglobin SS (HbSS) is the most common and severe form of sickle cell disease, accounting for around 65 percent of cases (and commonly called sickle cell anemia). Children with hemoglobin SS have chronic anemia.
- Hemoglobin SC disease (HbSC) is a relatively mild form, accounting for around 25 percent of cases. Symptoms don’t usually develop until later in childhood.
- Sickle beta zero thalassemia has severe symptoms similar to HbSS (and is also sometimes called sickle cell anemia). It affects just 2 percent of people with sickle cell disease.
- Sickle beta plus thalassemia affects about 8 percent of people with sickle cell disease. It’s considered a mild type, but some children can potentially have severe symptoms.
What causes sickle cell disease?
Sickle cell disease is an inherited disorder caused by a mutation in a gene involved in telling the body to make red blood cells.
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If two parents each have a copy of this sickle cell gene and both pass it on to their child, their child will have sickle cell disease. If just one parent passes the sickle cell gene to the child, the child will be a carrier of the disease, which is known as having sickle cell trait (SCT), but won’t usually have symptoms of the disease. But people with SCT can still pass the sickle cell gene onto their future children.
The sickle cell gene that causes sickle cell disease is most common in people whose families originally came from Africa, the Caribbean, South and Central America, India, Saudi Arabia and some Mediterranean countries including Turkey, Greece and Italy.
The Centers for Disease Control and Prevention (CDC) estimates that sickle cell disease affects approximately 100,000 Americans, occurring in about 1 in 365 Black births and 1 in 16,300 Hispanic births.
How is sickle cell disease diagnosed in newborns?
Sickle cell disease is screened for during the newborn heel stick test — a fast, simple blood test administered to all babies before they go home from the hospital. In some cases, it may also be diagnosed before birth with amniocentesis.
Screening for sickle cell disease shortly after birth is important, because it allows infants with sickle cell disease to start treatment before they even show symptoms. That can help reduce their risk for dangerous infections and prevent serious complications that could occur if treatment was delayed.
Symptoms of sickle cell anemia in babies
Babies with sickle cell anemia have the disease at birth but don’t typically begin to show signs until they're about 5 months old. Around that time, the lack of oxygen in the blood caused by fewer red blood cells can cause a child to experience symptoms, including:
- Fatigue
- Shortness of breath
- Pale skin or lips
- Rapid heart rate
- Swelling of the hands and feet
Sickle cell anemia can also cause episodes of severe pain, called pain crises. These episodes, which happen when crescent-shaped red blood cells prevent blood from flowing through blood vessels, can last for hours or days and may require hospitalization. Often they’re triggered by dehydration, stress or exposure to cold.
Children with sickle cell anemia are also more prone to serious infections like pneumonia. Over time, they might experience delayed growth or sustain retinal damage that causes vision problems.
Treatment for sickle cell anemia in babies and children
Stem cell or bone marrow transplants are the only known cure for sickle cell anemia. But it can be hard to find a donor match and the procedure is risky, so it’s usually only used for very severe cases.
For most babies and children, treatment is usually focused on preventing complications and pain episodes and improving symptoms. Treatment tends to be individualized based on a child’s symptoms and severity of the disease.
Your child's care team, including a pediatrician and pediatric hematologist, may recommend the following:
- Medications such as hydroxyurea or l-glutamine to prevent pain episodes and other complications, as well as medications to ease pain when pain crises occur.
- Twice-daily doses of antibiotics until age 5, which can significantly reduce the risk for serious infections.
- Staying on top of their recommended vaccinations, which can also reduce the risk for infections.
- Folic acid supplements and folate-rich foods (like fruits, vegetables and whole grains), which can help the body make more red blood cells.
- Staying hydrated and avoiding extreme temperatures to avoid triggering pain episodes.
- In some cases, blood transfusions, which can increase a child’s number of healthy red blood cells.
National research efforts are underway to uncover new treatments and cures. One promising option is gene therapy, where the sickle cell-causing gene is replaced by a healthy one.
Sickle cell anemia is a serious disorder that can have significant health consequences. But it’s manageable when diagnosed at birth. Starting before a child even shows symptoms can help kids avoid complications as much as possible and live active lives.
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