Sickle Cell Disease Is Often Diagnosed Shortly After Birth: Starting Care Early Is Crucial

People who have SCD have red blood cells with abnormal hemoglobin (a protein in the blood that carries oxygen). This causes their red blood cells to be C-shaped (resembling a sickle tool). Normally, red blood cells are round.

Sickle cells tend to die early, which leads to shortages of red blood cells in people with the disease. Plus, the sickle cells can become hard and sticky, and they may clog blood flow when traveling through small blood vessels, which means proper oxygen does not reach tissues.

This lack of oxygen can lead to severe pain, organ damage, and other issues.

More: Symptoms of Sickle Cell Disease

Treatment for SCD will depend on the type a person has as well as other factors (like their overall health and the severity of the disease).

More: Types of Sickle Cell Disease

More: Sickle Cell Disease Treatment Options

While it’s a serious disease that requires early intervention, it’s important to know that people with SCD can go on to live relatively normal and healthy lives.

Newborn Screening for Sickle Cell Disease

Babies are typically screened for sickle cell disease as newborns.

“In the United States, we have newborn screening in all states … so most people who are born with sickle cell disease are identified shortly after birth,” Dr. Sophie Lanzkron, Director of the Sickle Cell Center for Adults at Johns Hopkins, tells SurvivorNet.

“It’s really important that [sickle cell disease] gets identified at birth because if you have the homozygous form of sickle cell disease, the baby is at an increased risk of having a life-threatening infection,” Dr. Lanskron adds.

These families will need to be taught how to treat their child and what signs to look out for to ensure their baby stays in good health, Dr. Landkron says.

What Are the Signs of Sickle Cell Disease in Babies?

Babies are born with a form of hemoglobin called fetal hemoglobin. This hemoglobin is replaced by the "adult" version of hemoglobin over four to six months after birth.

Thus, signs and symptoms of SCD may not show until all fetal hemoglobin has been replaced, Dr. Lanskron explains.

“Often, the first manifestations of the disease aren’t seen until the babies are six months or older,” Dr. Lanskron says.

These symptoms may include:

• Pain
• Fever
• Enlarged spleen

Why Is Early Detection So Important?

Early detection of sickle cell disease is critical to make sure that babies can live pain-free and receive proper care for their condition.

Treatment for SCD will depend on the type a person has as well as other factors (like their overall health and the severity of the disease). In some cases, babies may need to be started on medication at a very young age.

They may be started on penicillin prophylaxis, Dr. Lanskron explains, which can help protect children from bacterial infections like pneumonia. Children with SCD may be more at risk for severe infections because the disease damages the spleen.

Once a child is diagnosed, “parents are taught how to assess their baby’s spleen and what to do if the baby has an infection … all of these things that are really important that have been demonstrated to improve survival,” Dr. Lanskron says.

“In places like Africa where they don’t have newborn screening, 50,000 children die before their fifth birthday because they don’t have access to newborn screening, penicillin prophylaxis, and educating providers,” she adds.

“So, it really makes a big difference.”

Questions to Ask Your Doctor

If you are pregnant:

• Can I be tested to see if I have a sickle cell trait that can be passed onto my child?

If you have a child with SCD:

• What type of sickle cell disease does my child have?
• What are the treatment options for that type?
• How can we monitor symptoms at home?
• What lifestyle adjustments can be made to help control the disease for my child?

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