Sickle Cell Disease in Children
Overview
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.
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 they are a carrier of the disease. If two 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.
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 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 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.
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
Treatment will depend on your child’s symptoms, age, and general
health. It will also depend on how bad 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. This is when donated blood is given to
your child through a vein in their arm. No blood is removed from your child. It's
used to treat anemia, chronic pain, acute chest syndrome, and splenic sequestration,
and to prevent stroke.
-
Red blood cell exchange. This
is when some of the child's red blood cells are removed from their body and replaced
with normal red blood cells from a donor. This can help reduce complications of
sickle cell disease.
-
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.
-
Transcranial ultrasound exams. These are done to screen
those people with sickle cell who are at risk for stroke.
-
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 choices with
your child's healthcare provider.
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, 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 a painful, prolonged erection. 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 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 set off 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 their hands often
- Having all advised vaccines, such as
pneumococcal and influenza
- Having all advised screenings, such as
hepatitis C
- Penicillin is routinely given to all children with sickle cell
under the age of 5 to prevent infections
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 greater than 100.4°F (38°C), or
as advised by your child's provider
- Symptoms of an enlarged spleen, such
as pain on the left side of the belly
- Trouble breathing
- Severe headaches
- Sudden loss of vision
- Symptoms of severe anemia (fast
heartbeat, dizziness, shortness of breath, or pale skin)
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 SCD as part
of a group of screening tests.
- Most children will start to have signs
or symptoms during the first year of life.
Next Steps
Tips to help you get the most from
a visit to your child’s healthcare provider: