Birth defects

• Birth defects can cause disabilities and even death.
• Alcohol and drug use while pregnant can cause birth defects.
• Ask your provider what you can do to prevent birth defects.

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Sickle cell disease (also called SCD) is a condition in which the red blood cells in your body are shaped like a sickle (like the letter C). Red blood cells carry oxygen to the rest of your body. In a healthy person, red blood cells are round and flexible. They flow easily in the blood. A person with SCD has red blood cells that are stiff and can block blood flow. This can cause pain, infections and, sometimes, organ damage and strokes.

SCD is a kind of anemia. Anemia happens when you don’t have enough healthy red blood cells to carry oxygen to the rest of your body.

In the United States, SCD is most common among blacks and Hispanics. SCD affects about 1 in 500 black births and about 1 in 36,000 Hispanic births in this country. SCD is also common among people with family from Africa, the Caribbean, Greece, India, Italy, Malta, Sardinia, Saudi Arabia, Turkey or South or Central America.

If your baby is born with SCD, he may be generally healthy or he may need special care throughout his life.

What causes SCD?
SCD is inherited. This means it’s passed from parent to child through genes. A gene is a part of your body’s cells that stores instructions for the way your body grows and works. Genes come in pairs—you get one of each pair from each parent.

Sometimes the instructions in genes change. This is called a gene change or a mutation. Parents can pass gene changes to their children. Sometimes a gene change can cause a gene to not work correctly. Sometimes it can cause birth defects or other health conditions. A birth defect is a health condition that is present in a baby at birth.

Your baby has to inherit a gene change for sickle cell from both parents to have SCD. If he inherits the gene change from just one parent, he has sickle cell trait. This means that he has the gene change for SCD, but he doesn’t have SCD. When this happens, he’s called a carrier. A carrier has the gene change but doesn’t have the condition.

Sickle cell trait cannot become SCD. A few people with sickle cell trait show signs of SCD, but this is unusual. Most don’t.

Are there different kinds of SCD?
Yes. Common kinds of SCD are:

• Sickle cell anemia (also called hemoglobin SS). Hemoglobin is the part of red blood cells that carries oxygen to the rest of the body. Sickle cell anemia is caused when a baby gets one sickle cell gene change from each parent.
• Hemoglobin SC. This condition is caused when a baby gets one sickle cell gene change from one parent and one gene change for hemoglobin C (another abnormal type of hemoglobin) from the other parent.
• Hemoglobin S-beta thalassemia. This condition is caused when a baby gets a sickle cell gene change from one parent and a gene change for beta thalassemia from the other parent. Thalassemia is another kind of anemia.

How do you know if your baby has SCD or sickle cell trait?
All babies have a newborn screening test for SCD. Newborn screening checks for serious but rare and mostly treatable conditions at birth. It includes blood, hearing and heart screening. With newborn screening, SCD can be found and treated early.

Before your baby leaves the hospital, his health care provider takes a few drops of blood from his heel. The blood is collected and dried on a special paper and sent to a lab for testing. The lab then sends the results back to your baby’s provider.

If newborn screening results aren’t normal, it simply means your baby needs more testing. Your baby’s provider can recommend another kind of test, called a diagnostic test. This test can check to see if your baby has SCD or if there is some other cause for abnormal test results.

What problems can SCD cause?
Some children with SCD may be generally healthy, while others may need special care. The most common health problems related to SCD are:

Acute chest syndrome. This condition is very serious and painful. It’s caused by an infection and/or blocked blood flow in the lungs. Signs and symptoms include breathing problems, chest pain and fever. Your child’s provider may recommend treatment with: 

• Antibiotic medicine. This is medicine that kills infections caused by bacteria.
• Blood transfusions. This means your baby gets new blood put into her body.
• Pain medicines
• Oxygen and medicines that help open up blood flow and improve breathing

Anemia. This condition happens when your baby doesn’t have enough healthy red blood cells to carry oxygen to the rest of his body. Signs and symptoms include:

• Being pale
• Tiring easily
• Breathing problems
• Slower growth and later puberty than healthy children

Treatment depends on your child’s symptoms and may include antibiotics and blood transfusion.

Hand-foot syndrome. This condition happens when the sickle cells block blood flow in your child’s hands and feet. Signs and symptoms include fever and pain, swelling or coldness in the hands and feet. Your baby’s provider may recommend pain medicine and fluids to treat hand-foot syndrome.

Infections, including pneumonia (lung infection) and meningitis (infection of the lining of the brain). Signs and symptoms may include: 

• Fever
• Coughing
• Breathing problems
• Pain in the bones
• Headaches

You can help protect your child from certain infections by making sure she’s up to date on her vaccinations. If your baby does get an infection, treatment usually is with antibiotic medicine. And taking regular regular antibiotic medicine helps prevent her from getting infections between 2 months and 5 years of age.

Pain episodes. These are common and happen when sickle cells block blood flow. Pain can occur in organs and joints. It can last a few hours, a few days or even for weeks. For some children, pain episodes can happen up to six or more times a year. To help prevent pain episodes in your child, make sure she:

• Drinks plenty of fluids
• Doesn’t get too hot or cold
• Stays away from places with high altitudes where oxygen levels are low
• Avoids exercise or activities that make her feel very tired

Treatment for pain episodes includes:

• Heating pads
• Over-the-counter pain relievers or fever reducers, like acetaminophen and ibuprofen. Over-the-counter means you can buy these without a prescription from your health care provider.
• Prescription pain medicines. You need a prescription from your baby’s provider for these medicines. A prescription is an order for medicine written by a health care provider.
• Hydroxyurea. This is a medicine that helps the body make a kind of hemoglobin (called fetal hemoglobin) that a baby makes before birth. The medicine may prevent red blood cells from sickling.

Splenic crisis. This condition happens when the spleen gets clogged with sickle cells and swells up. The spleen is an organ that filters blood in your body and fights infection. Signs and symptoms include pain on the left side of the belly, weakness and a rapid heart rate. Splenic crisis usually is treated in the hospital with blood transfusions. Your child’s provider may recommend removing the spleen if your child has splenic crisis often.

Stroke. This condition can happen when sickle cells block blood flow to the brain. Signs and symptoms include severe headache, weakness on one side of the body, and changes in alertness, speech, vision or hearing. If your child has any of these signs or symptoms, contact your health provider right away for treatment. His provider may recommend using a special kind of ultrasound, called Doppler ultrasound, on the brain to find out your child’s risk for stroke. She may recommend a yearly ultrasound starting at age 2.

Vision problems. Vision problems and blindness can happen when sickle cells block blood flow in your child’s eyes or in the part of the brain that the eyes connect to. His provider may recommend regular eye exams. Laser treatment of the eyes may prevent further vision loss.

Is there a cure for SCD?
There is no widely available cure for SCD. But a small number of children with SCD have been cured through stem cell transplant.

Stem cells are cells that can develop into many different kinds of cells in the body. They serve as a repair system for the body. Stem cells are found in bone marrow. This is the spongy tissue inside some bones, like your hip and thigh bones. Stem cells also are found in umbilical cord blood, the blood in the umbilical cord and placenta. This blood can be collected after the umbilical cord is cut at birth. Talk to your health care provider if you’re thinking about collecting your baby’s umbilical cord blood.

In a stem cell transplant for SCD, stem cells taken from a healthy person are put into a person with SCD. This procedure is very risky and can have serious side effects, including death. Talk to your child’s health care provider to find out more about stem cell transplant for SCD.

For more information
Centers for Disease Control and Prevention (CDC)
National Heart, Lung and Blood Institute
Sickle Cell Disease Association of America

Last reviewed November 2012

See also:  Genetic counseling