Dr. MJ Bazos MD,
Sickle Cell Disease
What is sickle cell disease?
Sickle cell disease causes the red blood cells
to make abnormal hemoglobin. Hemoglobin is the part of blood that carries oxygen
in the body. There are different kinds of sickle cell disease. Some kinds are
mild, but others cause serious illness.
Sickle cell disease is an inherited disease -
meaning it is passed by parents to their children.
Who gets sickle cell disease, and
Sickle cell disease is most common in people
whose ancestors came from Africa, Central America (especially Panama), South
America, Caribbean nations, Mediterranean countries, India or Near Eastern
To get sickle cell disease, a child has to
inherit the sickle hemoglobin gene from one parent and a sickle gene or another
abnormal hemoglobin gene from the other parent.
People with one normal gene and one sickle gene
are carriers of the abnormal gene. This means that they have the sickle cell
trait but not sickle cell disease. A child born to parents who both have sickle
cell trait has a 25 percent chance of getting sickle cell disease.
If a child has one parent who has sickle cell
trait and the other parent has a gene for another kind of abnormal hemoglobin,
the child has a chance of getting a different kind of sickle cell disease.
What happens to red blood cells in
sickle cell disease, and what problems can this cause?
|PICTURE 1. Normal red blood
|PICTURE 2. Sickle
When the red blood cells of people with sickle
cell disease don't get enough oxygen, these cells change shape. They become
longer and curved. Some people think they look like the blade of a cutting tool
called a "sickle." Picture 1 shows normal red blood cells, and picture 2 shows
Sickle cells can get stuck in blood vessels and
keep blood from reaching parts of the body. This causes pain and can damage the
body's internal organs. Blocked blood vessels in the arms, legs, chest or
abdomen can cause strong pain. Children with sickle cell disease might get more
infections because their spleen is damaged by sickle cells. (One of the spleen's
main jobs is to protect against infection.) When sickle cells block blood flow
to organs and cause pain and other problems, this is called a "sickle cell
crisis," or a "pain crisis."
How can my doctor tell if my baby
has sickle cell disease?
If you are at risk because of your family
history or ethnic group, ask your doctor to check you and your sexual partner
for sickle cell trait or disease before you get pregnant. Then you will know if
you might have a child with sickle cell disease. Your doctor might want you to
get genetic testing. If you are already pregnant, you might get testing for your
Most states test newborn babies for sickle cell
disease. If your state does not do this, your doctor can get a special blood
test for your baby. This test will show if your baby has sickle cell disease.
How is sickle cell disease treated?
If your child has sickle cell disease, he or she
is at risk for some infections, lung problems and pain. Your child will need to
take an antibiotic (usually penicillin) to prevent bad infections. Also, certain
vitamins, like folic acid, can help your child's body replace damaged blood
cells. Your child needs to have all of the recommended shots for children. Your
child will also need a few special shots.
Your child will need to see your family doctor
often for blood tests and to be checked for damage to internal organs. If your
child has pain, fever, weakness or trouble breathing, he or she may need
IV (intravenous) fluids (liquids given through a needle placed in your
child's vein) and antibiotics. Your child may also need oxygen, blood
transfusions and strong pain medicines. Special treatments will be needed if
your child has organ damage.
When should I call my child's
You should call your doctor right away if your
child has any of these signs:
- Swollen hands or feet
- Sudden paleness of the skin or nail beds
- Yellow color of the skin or eyes
- Fever or signs of infection
- Swelling in the abdomen (tummy)
- Sudden tiredness with no interest in what is
- Erection of the penis that won't go away
- Trouble hearing or seeing
- Weakness on one side of the body or a sudden
change in speech
- Trouble breathing
- Joint, stomach, chest or muscle pain, or limping
Can sickle cell
disease be cured?
Generally, not. But with good care, people with
sickle cell disease can live a mostly normal life. Bone marrow transplants can
cure the disease in a small number of people.