 Sickle
cell disease is a group of inherited red blood
cell disorders. Healthy red blood cells are
round, and they move through small blood vessels
to carry oxygen to all parts of the body. In
sickle cell disease, the red blood cells become
hard and sticky and look like a C-shaped farm
tool called a “sickle”. The sickle cells die
early, which causes a constant shortage of red
blood cells. Also, when they travel through
small blood vessels, they get stuck and clog the
blood flow. This can cause pain and other
serious problems. |
To learn more about sickle cell
disease click on one of the following links or scroll
down the page.
Q
What causes sickle cell disease?
A Sickle
cell disease is a genetic condition that is present at
birth. It is inherited when a child receives two sickle
cell genes - one from each parent.
Click here to learn more about
the different types of sickle cell disease.
Q How
is it diagnosed?
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A Sickle
cell disease is diagnosed with a simple blood test. It
is most often found at birth during routine
newborn screening tests at the hospital. In
addition, sickle cell disease can be diagnosed before
birth. |
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Fast Fact: All 50 states in the United States have
newborn screening programs for sickle cell
disease. |
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Because children with sickle cell disease are at an
increased risk of infection and other health problems,
early diagnosis and treatment are important.
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Q
What are the symptoms and complications and how
are they treated?
A People
with sickle cell disease start to have symptoms
during the first year of life, usually around 5
months of age. Symptoms and complications of sickle
cell disease are different for each person and can
range from mild to severe. |
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Did you know: The reason that babies don’t show symptoms
of sickle cell disease at birth is because
“baby” hemoglobin protects the red blood
cells from sickling. Around 4 to 5 months
old, the “baby” hemoglobin is replaced by
“adult” hemoglobin and the cells begin to
sickle.
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-
 Hand-foot syndrome
This is usually the first symptom of sickle cell
disease. Swelling in the hands and feet, often along
with a fever, is caused by the sickle cells getting
stuck in the blood vessels and blocking the flow of
blood in and out of the hands and feet.
Treatment: Pain medicine and fluids, such as
water.
- Pain “episode” or
“crisis”
This is the most common complication, and
the top reason that people with sickle cell disease
go to the emergency room or hospital. When sickle
cells travel through small blood vessels, they can
get stuck and clog the blood flow. This causes pain
that can start suddenly, be mild to severe, and can
last for any length of time.
Prevention: There are simple steps that people with
sickle cell disease can take to help prevent and reduce
the number of pain crises:
- Drink plenty of water.
- Try not to get too hot or too cold.
- Try to avoid places with high altitudes (flying,
mountain climbing, or cities with a high altitude).
- Try to avoid places or situations with low oxygen
(mountain climbing or exercising extremely hard, such as
in military boot camp or when training for an athletic
competition).
- Adults with severe sickle cell disease can take a
medicine called hydroxyurea to help reduce the number of
pain crises.
- People taking hydroxyurea must be checked
often by a doctor because the medicine can cause serious
side effects, including an increased risk of dangerous
infections.
Treatment: Pain medicine.
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Anemia
This is a very common complication. With sickle cell
disease, the red blood cells die early. This means there
are not enough healthy red blood cells to carry oxygen
throughout the body. When this happens, a person might
have:
- Tiredness
- Irritability
- Dizziness and lightheadedness
- Fast heart rate
- Difficulty breathing
- Pale skin color
- Jaundice (yellow color to the skin and whites of the
eyes)
- Slow growth
- Delayed puberty
Treatment: Blood transfusions are used to
treat severe anemia. |
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Fast Fact: Taking iron supplements will not help
people with sickle cell disease. This type
of anemia is not caused by too little iron
in the blood; it’s caused by not having
enough red blood cells.
In fact, taking iron supplements could harm
a person with sickle cell disease because
the extra iron builds up in the body and can
cause damage to the organs. |
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A sudden worsening of anemia resulting from infection or
enlargement of the spleen is a common reason for a
transfusion. |
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Infection
People with sickle cell disease, especially infants and
children, are more at risk for harmful infections.
Pneumonia is a leading cause of death in infants and
young children with sickle cell disease.
 Prevention: Vaccinations can protect against harmful
infections. Babies and children with sickle cell disease
should have all of the regular childhood vaccinations,
plus a few extra. The extra ones are:
In addition, children with sickle cell disease should
receive a daily dose of penicillin, an antibiotic
medicine, to help prevent infections. This can begin at
2 months of age and continue until the child is at least
5 years of age.
Treatment: Infections are treated with antibiotic
medicines and sometimes blood transfusions. At the first
sign of an infection, such as a fever, it is important
for people with sickle cell disease to see a doctor.
Early treatment of infection can help prevent problems.
Click here for a tip sheet on
how to help prevent infection.
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- Acute chest syndrome
This can be life-threatening and should be
treated in a hospital. It is similar to pneumonia
and symptoms include chest pain, coughing,
difficulty breathing, and fever.
 Prevention:
Adults with severe sickle cell disease can take a
medicine called hydroxyurea to help prevent acute
chest syndrome. People taking hydroxyurea must be
watched closely because the medicine can cause
serious side effects, including an increased risk of
dangerous infections.
A person who is on bed
rest or has recently had surgery can use an
incentive spirometer, also called “blow bottle”, to
help prevent acute chest syndrome.
Treatment: Depending on the cause, treatment
might include oxygen, medicine to treat an
infection, medicine to open up blood vessels to
improve blood flow, and blood transfusions.
- Splenic sequestration
This can be life-threatening and should be treated in a
hospital. It happens when a large number of sickle cells
get trapped in the spleen and cause it to suddenly get
large. Symptoms include sudden weakness, pale lips, fast
breathing, extreme thirst, abdominal (belly) pain on the
left side of body, and fast heart beat.
Parents of a child with sickle cell disease should learn
how to feel and measure the size of their child’s
spleen.
Prevention: For those who have had a very severe,
life-threatening episode of splenic sequestration or who
have had many episodes in the past, it might be
necessary to have regular blood transfusions or the
spleen can be removed (called splenectomy) to stop it
from happening again.
Treatment: Treatment typically is a blood transfusion.
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- Vision loss
 Vision loss, including blindness, can occur when blood
vessels in the eye become blocked with sickle cells and
the retina (the thin layer of tissue inside the back of
the eye) gets damaged.
Prevention: People with sickle cell disease should have
their eyes checked every year to look for damage to the
retina. If possible, this should be done by an eye
doctor who specializes in diseases of the retina.
Treatment: If the retina is damaged, laser treatment
often can prevent further vision loss.
- Leg ulcers
This usually occurs on the lower part of the leg. They
happen more often in males than in females and usually
appear from 10 through 50 years of age. The cause of leg
ulcers is unclear.
Treatment: Leg ulcers can be treated with medicated
creams and ointments. Leg ulcers can be painful, and
patients can be given strong pain medicine. Bed rest and
keeping the leg (or legs) raised to reduce swelling is
helpful, although not always possible.
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- Stroke
A stroke can happen if sickle cells get stuck in a blood
vessel and clog blood flow to the brain. About 10% of
children with sickle cell disease will have a stroke.
Stroke can cause lifelong disabilities and learning
problems.
Prevention: Doctors can sometimes identify children who
are at risk for stroke using a special type of exam
called, “transcranial Doppler ultrasound.” In some
cases, a doctor might recommend frequent blood
transfusions to help prevent a stroke. People who have
frequent blood transfusions must be watched closely
because there are serious side effects. For example, too
much iron can build up in the body, causing
life-threatening damage to the organs.
- Other possible complications
- Damage to body organs, tissues, or bones because not
enough blood is flowing to the affected area(s).
- Gallstones.
- Painful erection of the penis, called priapism, that
can last less than 2 hours or more than 4 hours. If it
lasts more than 4 hours, the person should get urgent
medical help. It can lead to impotence.
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Q
Is there a cure?
A The only cure for SCD is bone marrow/stem cell
transplant.
Bone marrow is a soft, fatty tissue inside the center of
the bones where blood cells are made. A bone marrow/stem
cell transplant is a procedure that takes healthy cells
that form blood from one person - the donor - and puts
them into someone whose bone marrow is not working
properly.
Bone marrow/stem cell transplants are very risky, and
can have serious side effects, including death. For the
transplant to work, the bone marrow must be a close
match. Usually, the best donor is a brother or sister.
Bone marrow/stem cell transplants are used only in cases
of severe sickle cell disease for children who have
minimal organ damage from the disease.
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Q
Can a person “catch” sickle cell disease from someone
who has it?
A No, a person cannot “catch” sickle cell disease from
another person. Sickle cell disease is a genetic
condition that is inherited when a child receives two
sickle cell genes - one from each parent.
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Q
Can a woman with sickle cell disease have a healthy
pregnancy?
 A Yes; however, women with sickle cell disease are more
likely to have problems during pregnancy that can affect
their health and the health of their unborn baby. During
pregnancy, the disease can become more severe and pain
episodes can occur more frequently. A pregnant woman
with sickle cell disease is at a higher risk of preterm
labor and of having a low birthweight baby. However,
with early prenatal care and careful monitoring
throughout pregnancy, women with sickle cell disease can
have a healthy pregnancy.
During pregnancy, there is a test to find out if the
baby will have sickle cell disease, sickle cell trait,
or neither one. The test is usually done after the
second month of pregnancy.
Women with sickle cell disease might want to see a
genetic counselor
to find information about the disease and the chances
that sickle cell disease will be passed to the baby.
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