You can fight sickle cell disease

Sickle cell disease may not grab as many headlines as illnesses like cancer or heart disease. You can't catch it from someone else, and you can't prevent it. But if it affects you or someone you love, it's important to know that you can treat it. Everyone can benefit from a little knowledge about this serious blood disorder. If you’re African-American, Hispanic or a member of certain other ethnic groups, you may carry the gene that causes sickle cell disease; and even if you’re not, you may work with a child or adult who has the condition and should know what to expect.

What is sickle cell disease?
Who gets it? How?
What are the symptoms and complications?
How is sickle cell disease treated?
What other problems can people with sickle cell disease have?
What can I do?

What is sickle cell disease?

Sickle cell disease is a blanket term for several related blood disorders, including sickle cell anemia. It’s caused by a genetic abnormality that affects the production of red blood cells, which carry oxygen from the lungs to the rest of the body. Normal red blood cells are soft and round; in people with sickle cell disease, they are hard, pointed and shaped like the letter C. They can get stuck in small blood vessels, causing blockages that can sometimes produce severe pain, tissue and organ damage, and other serious medical complications. People with sickle cell disease are at high risk for stroke and infection, and live shorter lives.

Who gets sickle cell disease? How?

The only way to get sickle cell disease is to be born with it. People who have the disease inherited a copy of the sickle cell gene from both parents. It isn’t necessary for one of the parents to have sickle cell disease — people who carry a single copy of the sickle cell gene have normal red blood cells, but can pass the gene on to their children. Two people who each have a single copy of the gene have a 25 percent chance with each pregnancy that the child will have sickle cell disease.

About 70,000 people in the United States have sickle cell disease, including about 4,000 people in Arkansas. It’s most common in people of African descent. In the United States, about one of every 500 African-American babies is born with sickle cell disease, and an estimated one in 12 black people carries the sickle cell gene. Sickle cell disease is also more common in people of South American and Central American ancestry (in the U.S., one in 900 Hispanic babies is born with the disease, and one in 16 Hispanic adults carries the gene) as well as people of Indian, Saudi Arabian, Italian, Turkish and Greek heritage.

What are the symptoms and complications of sickle cell disease?

Chronic anemia. Anemia can lead to fatigue, shortness of breath and pale skin.
Pain. Pain is caused by sickle cells blocking tiny blood vessels; the pain of sickle cell disease can be chronic, but more often comes in periodic episodes that can be severe enough that patients must be treated in a hospital.
Infection. Sickle cell disease damages the spleen, making people with the disease much more susceptible to serious infections. Young children especially are at risk of developing infections that can turn fatal within a few hours.
Organ and tissue damage. Blocked blood vessels can starve organs and tissues of vital oxygen and nutrients in blood.
Stroke. Children are especially at risk for stroke, which is caused by blocked blood vessels leading to the brain.
Stunted growth and delayed puberty. This is caused by the chronic anemia of sickle cell disease.
Hand-foot syndrome. Blocked blood vessels can cause swelling and pain in the hands and feet, sometimes accompanied by fever. This is often the first symptom of sickle cell disease in babies.
Lung problems. Infection or trapped sickle cells in the lungs can cause acute chest syndrome, a life-threatening complication similar to pneumonia.

How is sickle cell disease treated?

Just a few decades ago, children born with sickle cell disease rarely lived to adulthood. Advances in treatment continue to increase life expectancy. Some of the most common treatments are:

Pain medications, ranging from over-the-counter drugs to prescription opioids.
Antibiotics. Doctors prescribe daily antibiotics for sickle cell patients under the age of 5 to prevent potentially life-threatening infections.
Hydroxyurea. Originally developed to fight cancer, this drug is the only treatment that keeps red cells from sickling. In adults, it cuts the frequency of severe pain episodes and lessens tissue and organ damage, and can even lead to a longer life.
Blood transfusions. These increase the number of healthy red blood cells, which lowers the risk that sickle cells will form.
Bone marrow transplants. Some children with severe sickle cell disease have been cured using this treatment, but it’s not considered practical for widespread use because of the risks involved and the difficulty finding suitable donors.
Gene therapy. Researchers are hoping to find a cure for sickle cell disease by treating the defective gene that causes the condition.

What other problems can people with sickle cell disease have?

The effects of sickle cell disease aren’t just physical. Some other challenges sickle cell patients may face include:

Under-education. Children with sickle cell disease may miss a lot of school because of their illness, and even if they’re in class, they may not feel well enough to participate. If they fall behind, they may be even further discouraged by having to attend class with younger students.
Under-employment. This can be the result of under-education, but sickle cell patients may also end up missing a lot of work, or be limited to jobs that allow them to work from home or work part-time.

What can I do?

If you are a member of an ethnic or racial group that is at higher risk for carrying the sickle cell gene, you can talk to your doctor about having a simple blood test to determine whether you carry the gene. You can then use this knowledge to make informed decisions about having children. If you carry the gene and choose to have children, you will quickly know your child’s status, because all children born in Arkansas and most other states are screened at birth.