What is sickle cell disease?
Sickle cell disease (SCD) is a blood disorder that a child is born with. It's passed down through a parent’s genes. Children with SCD make an abnormal type of hemoglobin. This is the protein in red blood cells that carries oxygen to all parts of the body. With SCD, the body organs and tissues don’t get enough oxygen.

Healthy red blood cells with normal hemoglobin are round and move easily through blood vessels. When a child has SCD, the red blood cells are hard and sticky. They are shaped like the letter C (and like a farm tool called a sickle). These damaged red blood cells (sickle cells) clump together. They can’t move easily through the blood vessels. They get stuck in small blood vessels and block blood flow. This blockage can cause pain. It can also damage major organs.

Sickle cells die sooner than healthy cells. Normally the spleen helps filter infections out of the blood. But sickle cells get stuck in this filter and die. Having fewer healthy red blood cells causes anemia. The sickle cells can also damage the spleen. Without a healthy spleen, children are more at risk for serious infections.
There are several complex types of the sickle cell gene. Some don’t cause symptoms or severe problems, but others do. Talk to your child’s healthcare provider about the specific form of sickle cell your child has.

Most children with SCD will start showing symptoms during the first year, often around 5 months.

What causes sickle cell disease?
Sickle cell is present at birth. It is inherited when a child has 2 sickle cell genes, 1 from each parent.
A child who has only one sickle cell gene is healthy. But he or she is a carrier of the disease. If two carriers have a child, there is a greater chance their child will have sickle cell disease.
Once parents have had a child with sickle cell disease, there is a 1 in 4 chance that another child will be born with sickle cell disease. There is also a 1 in 2 chance that a child will be a carrier, like the parents.

Who is at a risk for sickle cell disease?

Having a family history of SCD increases your risk for the disease. SCD mainly affects people whose families came from Africa, and Hispanics whose families are from the Caribbean. But the gene has also been found in people whose families are from the Middle East, India, Latin America, and Mediterranean countries. It has also been found in American Indians.

What are the symptoms of sickle cell disease ?
Most people with SCD will start to have symptoms during the first year of life, often around 5 months. Each child’s symptoms may vary. They may be mild or severe. Symptoms can include:

• Anemia. This is the most common symptom. Having fewer red blood cells causes anemia. Anemia can make a child pale and tired.

• Yellowing of the skin, eyes, and mouth (jaundice). This is a common symptom. Sickle cells don't live as long as normal red blood cells. They die faster than the liver can filter them out. The yellow color is caused by a substance (bilirubin) that is released when the red blood cells die.

• Pain crisis, or sickle crisis. When sickle cells move through small blood vessels, they can get stuck. This blocks blood flow and causes pain. This sudden pain can happen anywhere, but most often occurs in the chest, arms, and legs. Babies and young children may have painful finger and toe swelling. Blocked blood flow may also cause tissue death.

• Acute chest syndrome. This is when sickle cells stick together and block oxygen flow in the tiny vessels in the lungs. This can be deadly. It often occurs suddenly, when the body is under stress from infection, fever, or fluid loss (dehydration). It looks like pneumonia and can include fever, pain, and a violent cough.

• Fewer red blood cells are able to move. This can cause a sudden drop in hemoglobin. It can be deadly if not treated at once.

• Splenic sequestration (pooling). The spleen becomes enlarged and painful when sickle cells get stuck and build up there.

• Swelling of hands and feet. The swelling is caused by sickle-shaped red blood cells blocking blood circulation in the hands and feet.

• Delayed growth or puberty. Red blood cells provide the body with the oxygen and nutrients needed for growth. A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in teenagers.

• Vision problems. Tiny blood vessels that supply the eyes can become plugged with sickle cells. This can damage the retina — the portion of the eye that processes visual images — and lead to vision problem.

The symptoms of SCD may look like other disorders or health problems. Always see your healthcare provider for a diagnosis.
 

How is sickle cell disease diagnosed?
Most hospitals check newborn babies for abnormal hemoglobin as part of routine newborn screening tests. Hospital newborn screening includes tests for all newborns within the first few days of life. These tests identify serious, life-threatening diseases.

SCD may be found as part of newborn screening. Your family history, your medical history, and a physical exam are all included in the diagnosis. If the screening test shows SCD, a blood test called hemoglobin electrophoresis may be done. It can tell if you’re a carrier of sickle cell. It can also tell if you have any of the diseases linked to the sickle cell gene. Other blood tests may also be done.

How is sickle cell disease treated?
Treatment will depend on your symptoms, age, and general health. It will also depend on how severe the condition is.
Early diagnosis and preventing further problems is important in treating this disease. Your healthcare provider will refer you to a hematologist. This is an expert in blood disorders. Other specialists may also be involved in your care.

Treatment may include:

• Pain medicines: These are used for pain crises.

• Drinking plenty of water daily (8 to 10 glasses). This helps prevent and treat pain crises. In some cases, IV (intravenous) fluids may be needed.  

• Blood transfusions. These are used to treat anemia, chronic pain, acute chest syndrome, and splenic sequestration, and to prevent stroke.

• Vaccines and antibiotics. These are used to prevent infections.

• Folic acid. This helps prevent severe anemia.

• Regular eye exams. These are done to screen for an eye condition called retinopathy. Have your eyes checked each year?

• Stem cell transplant. Transplants can cure some patients with SCD. Studies of this treatment are ongoing. Talk with your healthcare provider. Transplants are only done at certain medical facilities.

• Hydroxyurea. This is a medicine that can reduce the number of sickle cells in the blood. It reduces complications, painful episodes (crises), and hospital stays.