Pediatric 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.

Sickle cell is present at birth. It is inherited when a child has two sickle cell genes, one 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.

Having a family history of SCD increases a child’s 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.

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

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

In addition to a complete medical history and physical examination, diagnostic procedures for sickle cell may include blood tests, a complete family history and results of newborn screening.

Many states now perform hemoglobinopathy testing (testing babies for abnormalities of hemoglobin) as part of the newborn screening blood tests that are routinely done. State newborn screening refers to a test done on every baby born in every state of the country within the first few days of life, to detect serious, life-threatening diseases. State laws require that babies be tested between two and seven days of age, even if the baby seems healthy and has no symptoms of health problems.

Early diagnosis is essential to providing proper preventive treatment for some of the devastating complications of the disease. A hemoglobin electrophoresis is a blood test that can determine if the child is a carrier of a specific sickle cell trait, or has any of the diseases associated with the sickle cell gene.

Treatment will depend on your child’s 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 child's healthcare provider will refer you to a hematologist. This is an expert in blood disorders. Other specialists may also be involved in your child's 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 child’s eyes checked each year.
• Stem cell transplant. Transplants can cure some children with SCD. Studies of this treatment are ongoing. Talk with your child’s healthcare provider. Transplants are only done at certain medical centers.
• 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.

Complications of SCD include:

• Long-term anemia. This may lead to delayed healing and delayed growth and development.
• Pain crisis, or sickle crisis. In severe cases, your child may need treatment in a hospital.
• Acute chest syndrome. Over time, many episodes of acute chest syndrome can cause lasting (permanent) lung damage
• Splenic sequestration (pooling). When red blood cells build up in the spleen, it becomes enlarged and painful. The spleen can be damaged and scarred after many episodes of splenic sequestration. By age 8, many children with SCD have had their spleen removed. Or they may have lasting damage from repeated splenic sequestration. The risk for infection is a major concern for children without a working spleen. Infection is the major cause of death in children younger than age 5.
• Stroke. If the blood vessels to the brain are blocked, a stroke can occur. Serious long-term problems may result. A child who has had a stroke is more likely to have another one.
• Infections. Babies and children with SCD have a higher risk for infections.
• Priapism. The sickle cells block the blood vessels in the penis, causing great pain. If not treated right away, this can lead to the inability to have an erection (impotence).

SCD can affect any major organ. This can cause:

• Frequent infections
• Leg ulcers or serious sores
• Bone damage
• Gallstones
• Kidney damage
• Eye damage
• Multiple organ failure

Advances in preventive care and new medicines have reduced the life-threatening problems of sickle cell. But it is still a severe, chronic and sometimes fatal disease. Your child should be carefully managed by specialists. How your child is managed depends on:

• The type of sickle cell your child has
• How severe the disease is
• How often your child has complications
• How well you and your child follow preventive efforts

You may not be able to fully prevent your child from having complications of SCD. But helping your child live a healthy lifestyle can reduce some of the problems. Make sure your child has regular eye exams and gets stroke screening tests. Also talk with your child’s healthcare provider about making sure your child:

• Eats a healthy diet
• Gets enough sleep
• Drinks plenty of fluids

Stay away from things that may trigger a crisis for your child. These include:

• High altitudes
• Cold weather
• Swimming in cold water

Help your child prevent infections by:

• Staying away from people who are sick
• Washing his or her hands often
• Having all recommended vaccines such as pneumococcal
• Having all recommended screenings such as hepatitis C

Call your child's healthcare provider or get medical care right away if your child has:

• Sudden pain, mainly in the chest, belly, arms or legs
• Fever
• Symptoms of an enlarged spleen
• Trouble breathing
• Sudden loss of vision
• Symptoms of severe anemia