Sickle cell disease is a condition in which red blood cells are not shaped as they
should be. Red blood cells usually look like round discs. But in sickle cell disease,
they're shaped like crescent moons, or an old farm tool known as a sickle.
These sickle shaped cells get stuck together easily, and block off small blood
vessels. When blood can't get to where
it should, it can lead to pain and organ damage.
What Are the Signs & Symptoms of Sickle Cell Disease?
People with sickle cell disease can have pain when blood can't get to parts of
the body. These times are called pain
Pain may happen in any part of the body and may be brought on by cold, stress,
illness, or dehydration. 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
paleness, often seen in the skin, lips, or nailbeds
being short of breath
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.
Infection: People with sickle cell disease are a 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. Call your doctor and get medical care
right away if a fever happens.
Priapism: Guys with sickle cell disease can have painful, long-lasting
erections. If it's not treated quickly, damage can cause problems with getting erections
Stroke: Sickle-shaped cells can block small blood vessels in
the brain, causing a stroke. Signs can include headache,
, weakness of the arms and legs, speech problems, a facial droop, or loss
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 not contagious, so you can't catch it from someone else
or pass it to another person like a cold or an infection.
People with sickle cell disease have it because they inherited two sickle cell
, one from each parent. In some types of sickle cell disease, people
can inherit a sickle cell gene from one parent and a different abnormal hemoglobin
gene from the other parent.
A person who inherits the sickle cell gene from only one parent will not develop
the disease, but will have something called
. People with sickle cell trait often don't have any signs of the disease,
but they can pass the sickle cell gene to their children.
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 procedures, and for now are an option only for some
Scientists are studying gene therapy as a treatment 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, people with sickle cell disease can lead fairly normal
lives if they follow their treatment plan. Their plan might involve:
Immunizations and daily doses of penicillin to help prevent infection. Besides
having all recommended childhood vaccinations, teens with sickle cell disease should
get the pneumococcal, flu, and meningococcal
Taking folic acid supplements to help them make new red blood cells.
Taking hydroxyurea, a medicine that makes sickled red blood cells less sticky.
This helps people have fewer painful episodes and other complications. Hydroxyurea
needs to be taken every day.
Taking L-glutamine, another medicine that is newly approved for sickle cell disease.