Sickle Cell Disease in Children

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.

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
with 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 of life, often around 5 months.

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 they are a carrier of the disease. If 2 carriers have a
child,
there is a 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.

Most states check newborn babies
for abnormal hemoglobin as part of routine newborn screening tests. State newborn
screening includes tests for all newborns in 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 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.
  • There is ongoing research with newer medicines available.
    Discuss these options with your healthcare provider.

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

Be careful about certain exposures
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 advised vaccines such as
    pneumococcal
  • Having all advised 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 greater than 100.4°F (38°C), or
    as advised by your child’s provider
  • Symptoms of an enlarged spleen
  • Trouble breathing
  • Severe headaches
  • Sudden loss of vision
  • Symptoms of severe anemia
  • 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 SCD as part
    of a group of screening tests.
  • Most children will start to have signs
    or symptoms during the first year of life.

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.
  • Know how you can contact your child’s provider after office hours. This is
    important if your child becomes ill and you have questions or need advice.