You’re adjusting to life with your sweet newborn, and you receive scary news: Your baby has sickle cell disease, a group of inherited red blood cell disorders.
All newborns in the United States are screened for sickle cell disease with a blood test. If a diagnosis is confirmed, your child will need special care throughout their life, says Maria Boucher, MD, a specialist in children’s blood diseases and cancer and the director of the UNC Pediatric Sickle Cell Clinic.
Complications from sickle cell disease can be prevented and managed. Finding a care team of experts in sickle cell disease and educating yourself as a parent are important first steps.
If your baby has been diagnosed, here’s what you need to know.
1. Sickle cell disease is inherited and affects the body’s red blood cells.
Healthy red blood cells are round like an O and can move easily through blood vessels. They contain hemoglobin, a protein that carries oxygen to all parts of the body. But the red blood cells of people with sickle cell disease are shaped like sickles, a farm tool with a curved or crescent-shaped blade once commonly used to harvest grain. Sickle cells look more like C’s than O’s, and they clump together, which means they can’t move easily through blood vessels. They also die sooner than healthy red blood cells. As a result, organs and other tissues don’t get enough oxygen.
In the U.S., sickle cell disease is most common in people with African heritage. About 1 in every 365 Black or African American babies is diagnosed with sickle cell disease. About 1 in every 16,300 Hispanic babies has sickle cell disease. About 1 in 13 Black or African American babies is born with the sickle cell trait, called hemoglobin S trait, which means they are a carrier.
“For you to have a child with sickle cell disease, both parents have to at least be carriers of the gene that causes it, although people don’t always know they are carriers,” Dr. Boucher says. “If both parents are carriers, then the baby has a 25 percent chance of having the disease.”
The impact and severity of symptoms will differ depending on the type of sickle cell disease the child has.
2. Infections can be very dangerous for people with sickle cell disease.
From birth, people with sickle cell disease—especially infants and children—are at higher risk of infection, Dr. Boucher says, including harmful infections in the blood. The spleen is supposed to help clear infections, but it doesn’t work properly when someone has sickle cell disease.
Babies are given a preventive antibiotic to reduce the risk of bacteria in the bloodstream. “We start babies on penicillin at 2 months of age to help prevent bacteremia,” Dr. Boucher says. “If a baby or a child gets a fever, we categorize that as an emergency and tell the parents to bring the baby to the sickle cell clinic or an emergency room right away.”
Infections in the blood can be life-threatening and require immediate medical care, including IV antibiotics, Dr. Boucher says.
In addition to antibiotic treatment, infants and children with sickle cell disease need to keep up with routine childhood vaccinations, she says. “Children with sickle cell disease need extra vaccinations, too, to protect them against bacteria that cause infections in the blood.”
These include vaccinations for pneumonia and meningitis, among other infectious diseases.
3. Anemia is the most common symptom of sickle cell disease.
Having too few red blood cells to carry oxygen is known as anemia, and it can cause fatigue, weakness, dizziness and shortness of breath. Anemia also can cause jaundice, a yellowish discoloration of the skin and eyes.
“Anemia is constant,” Dr. Boucher says. “Unfortunately, it cannot be prevented, but learning the warning signs is important for prompt medical care.”
Children with severe sickle cell disease are prescribed hydroxyurea, an oral medication taken daily that helps improve anemia, decrease pain and prevent organ damage. It is to be taken indefinitely until treatments improve, Dr. Boucher says.
4. Sickle cell disease can cause episodes of extreme pain.
Pain is the main reason people with sickle cell disease go to the hospital or emergency room.
When sickle cells try to pass through small blood vessels, they can get stuck and block blood flow throughout the body, causing pain that is sometimes severe. These pain crises, also called vaso-occlusive episodes, or VOEs, can start without warning and last for any length of time. Pain can occur anywhere in the body, but it’s most often in the hands, feet, arms, legs, chest and back.
“People say it hurts worse than a broken bone,” Dr. Boucher says. “And usually, it’s completely unexpected. The person is just fine, then out of nowhere starts feeling pain.”
The age when pain episodes start is different for every child, she says.
“We can’t predict for families when the first pain crisis is going to be,” she says. “That’s the hardest part—not knowing when it’s going to happen.”
Treatment ranges from at-home care, such as rest, lots of water and over-the-counter pain relievers, to prescription painkillers and IV medications given in a hospital.
5. Sickle cells can lead to organ damage, so vigilance is key.
Sickle cell disease can damage any organ in the body, Dr. Boucher says. The reduced flow of oxygen can be particularly hard on the heart, lungs, spleen and kidneys. That’s why parents need to be aware of troublesome symptoms and take preventive measures to protect organs.
Parents should watch out for signs of organ damage such as difficulty breathing, swelling in the hands and feet, jaundice and changes in vision.
Kidney complications are common, but medications can help relieve problems if they’re caught early. Dr. Boucher suggests starting kidney function tests and testing urine samples when the child is between 5 and 10 years old so you will know if there’s a change in how the kidneys are working.
People with sickle cell disease are also at greater risk of lung problems, such as asthma and sleep apnea.
Children with sickle cell disease are at higher risk of stroke than other children. Sometimes, stroke symptoms are obvious, such as weakness in the arm, and other times they are “silent.” Talk to your child’s doctor about screening for stroke.
Blood flow blockage to the eyes because of sickle cells can cause vision loss. Children with sickle cell disease require regular eye exams to help prevent damage.
Make sure you talk to your doctor about any symptoms your child is having.
6. Preventing complications from sickle cell disease involves the whole family.
Doctors begin early helping parents understand the disease and its risks and treatments, Dr. Boucher says. Parents learn what treatments will be needed, how often the child needs to see the doctor, what activities to do and what to avoid, how to prevent infections, and other critical needs of the child.
It’s important for children with sickle cell disease to drink plenty of water, get moderate but not vigorous exercise, and avoid getting too hot or cold.
Parents learn when and how to address crises, particularly fevers and pain episodes.
“Sickle cell affects not just the child but the entire household,” Dr. Boucher says.
She says the best advice she can give parents is to keep up with regular doctor visits, typically every three to six months, even if their child seems healthy.
“Because we practice so much preventive medicine, it’s helpful to keep up the general routine of bringing the child to see us every three months,” she says. “This also gives us a chance to check for complications and manage them before they are severe.”
If you want to know more about sickle cell disease, or to find out if you are a carrier, talk to your doctor, or find one near you.