Overview

Sickle cell disease (SCD) is an inherited blood disorder that is present at birth. This means it is 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 all over the body. 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.

Causes

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 25% chance that another child will be born with sickle cell disease. There is also a 50% chance that a child will be a carrier, like the parents.

Risk Factors

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 Native American Indians.

Symptoms

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 do not 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.

Diagnosis

Most states check newborn babies for abnormal hemoglobin as part of routine newborn screening tests. State 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 child's 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 your child is a carrier of sickle cell. It can also tell if your child has any of the diseases linked to the sickle cell gene. Other blood tests may also be done.

Treatment

Your child’s healthcare provider will figure out the best treatment plan for your child based on:

  • How old your child is
  • His or her overall health and medical history
  • How sick your child is
  • How well your child can handle certain medicines, treatments, or therapies
  • How long the condition is expected to last
  • Your opinion or preference

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 options 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.
  • Vaccinations and antibiotics. These are used to prevent infections.
  • Folic acid. This helps prevent severe anemia.
  • This medicine helps reduce the frequency of pain crises and acute chest syndrome. It may also help decrease the need for frequent blood transfusions.
  • 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 specialized medical centers.

 

Complications

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, treatment in a hospital may be needed.
  • 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 of 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 of 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

Living with

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 following:

  • 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

Avoid things that may trigger a crisis for your child. These include:

  • High altitudes
  • Cold weather
  • Swimming in cold water

 Help your child avoid infections by:

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

When to Call a Healthcare Provider

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

Key Points

  • Sickle cell disease (SCD) is an inherited blood disorder that is present at birth. This means it is passed down through a parent’s genes.
  • With SCD, the red blood cells have an abnormal C shape. They get stuck in small blood vessels and block blood flow.
  • This blockage can cause pain and lead to infection. It can also damage a child’s major organs, and cause a stroke.
  • Newborns are checked for sickle cell disease as part of a group of screening tests.
  • Most children will start to have symptoms during the first year of life, often around 5 months.

Next Steps

Tips to help you get the most from a visit to your child’s healthcare provider:

  • Know the reason for the visit and what you want to happen.
  • Before your visit, write down questions you want answered.
  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
  • Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
  • Ask if your child’s condition can be treated in other ways.
  • Know why a test or procedure is recommended and what the results could mean.
  • Know what to expect if your child does not take the medicine or have the test or procedure.
  • If your child has a follow-up appointment, write down the date, time, and purpose for that visit.