Sickle cell disease is a condition in which red
blood cells are not shaped as they should be. Red blood cells look like round
discs. But in sickle cell disease, they're shaped like sickles, or crescent moons,
instead.
These sickle shaped cells get stuck together and block small blood vessels. This
stops blood from moving as it should, which can lead to pain and organ damage.
What Are the Signs & Symptoms of Sickle Cell Disease?
People with sickle cell disease can have pain crises. In a pain
crisis:
The pain may last a few hours, a few days, or sometimes longer.
Sometimes pain can be managed at home. But someone with severe pain might need
treatment in a hospital.
People with sickle cell disease often have a low number of red blood cells, or
anemia. Signs of anemia
include:
paleness, often seen in the skin, lips, or nailbeds
tiredness
dizziness
being short of breath
feeling lightheaded
being irritable
trouble paying attention
a fast heartbeat
People with sickle cell anemia may have jaundice (skin and whites of the eyes
look yellow). This happens because the sickle-shaped
red blood cells break down faster than normal cells.
What Problems Can Happen?
People with sickle cell disease can have problems that need immediate care by a
doctor, such as:
Acute chest syndrome: Caused by
, infection, and blockages of small blood vessels of the lung. Signs include
chest pain, coughing, trouble breathing, and fever.
Aplastic crisis: This is when the body temporarily does not make
enough red blood cells, and can cause severe anemia. Signs include paleness, extreme
tiredness, and a fast heartbeat.
Hand-foot syndrome: This painful
swelling of the fingers and toes (also called
) is the first sign of sickle cell anemia in some infants.
Infection: Kids with sickle cell disease are at risk for some
bacterial infections. It's important to watch for fevers of 101°F (38°C) or
higher, which can be signs of an infection. Get medical care right away if a fever
happens.
Priapism: Males with sickle cell disease can have painful, long-lasting
erections. If it's not treated quickly, damage can cause problems with getting erections
later on.
Splenic sequestration crises: The
traps the abnormal red blood cells and gets very large. This can lead
to a serious, quick drop in the number of red blood cells in the bloodstream. Signs
include paleness, weakness or extreme tiredness, an enlarged spleen, and belly pain.
Stroke: Sickle-shaped cells can block small blood vessels in
the brain, causing a stroke. Signs
include headache, seizures, weakness in the arms and legs, speech problems, a facial
droop, or loss of consciousness.
People with sickle cell disease are also at risk for problems such as leg ulcers,
bone or joint damage, gallstones, kidney damage, eye damage, and delayed growth.
What Causes Sickle Cell Disease?
Sickle cell disease is a genetic
condition. People who have it inherited certain hemoglobin genes from their parents.
Hemoglobin is the protein inside of red blood cells that carries oxygen. Abnormal
hemoglobin makes the red blood cells sickle shaped.
Someone who inherits a sickle cell gene from each parent has sickle cell disease.
Someone who inherits a sickle cell gene from one parent and a normal hemoglobin
gene from the other has
rather than sickle cell disease. Most people with sickle cell trait don't
have symptoms, but can pass the gene to their children.
Someone who inherits a sickle cell gene from one parent and another kind of abnormal
gene from the other parent may have a different form of sickle cell disease, such
as hemoglobin SC disease or sickle beta
thalassemia.
Sickle cell disease also might be diagnosed before a baby is born with a test on
the amniotic fluid or with a sample of tissue from the placenta.
How Is Sickle Cell Disease Treated?
Stem cell transplant (also called
bone marrow transplant) is the only known cure for sickle cell disease. Transplants
are complex and risky, and for now are an option only for some patients.
Scientists are studying gene therapy for
sickle cell anemia. One day, it's hoped that doctors can stop the disease by changing
or replacing the abnormal gene that causes it.
But even without a cure, kids with sickle cell disease can lead fairly normal lives
if they follow their treatment plan.
The treatment plan might involve:
Immunizations and daily doses of
penicillin to help prevent infection. Kids with sickle cell disease should get all
recommended vaccinations, including the pneumococcal,
flu, and meningococcal
vaccines.
Folic acid supplements, which can help kids make new red blood cells.
Hydroxyurea, a medicine that makes the cells less sticky. This helps decrease
the frequency and intensity of painful episodes and other complications. Hydroxyurea
is taken every day.
L-glutamine, another medicine. It's used if hydroxyurea isn't working well or
someone still has pain crises even with hydroxyurea.
Medicines to help manage pain when it does happen.
