Sickle Cell Disease (page 2)

Sickle cell disease is an inherited disorder in which red blood cells (RBCs) are abnormally shaped. This abnormality can result in painful episodes, serious infections, chronic anemia, and damage to body organs.

These complications can, however, vary from person to person depending on the type of sickle cell disease each has. Some people are relatively healthy and others are hospitalized frequently.

But thanks to advancements in early diagnosis and treatment, most kids born with this disorder grow up to live relatively healthy and productive lives.

A Closer Look at Sickle Cell Disease

The different forms of sickle cell disease are determined by the genes inherited from the person's parents.

Someone who inherits a sickle cell gene from each parent has hemoglobin SS disease, also called sickle cell anemia.

A person can also inherit a sickle cell gene from one parent and a different kind of abnormal gene from the other and end up with a different form of sickle cell disease, such as hemoglobin SC disease or hemoglobin S beta thalassemia.

Someone who inherits only one sickle cell gene and a normal gene from the other parent will have the sickle cell trait, but not the disease. A blood test can determine whether someone has a form of sickle cell disease or carries the sickle cell trait.

People with sickle cell trait don't have sickle cell disease and usually don't exhibit signs of the disorder, but they can pass the gene for the disease to their children. Many people don't know they have sickle cell trait, but most babies in the United States are now tested as part of their newborn screening. When both parents have the sickle cell trait, there's a 25% chance that a child will have sickle cell disease. But when one parent is carrying the trait and the other actually has the disease, the odds increase to 50% that their child will inherit the disease.

Who Is Affected?

In the United States, hemoglobin SS disease (sickle cell anemia) affects mostly African Americans. However, forms of sickle cell disease may occur in people with different ethnic backgrounds, such as those whose ancestors came from Mediterranean countries (including Turkey, Greece, and Italy), East India, or Middle Eastern countries.

Treatment

Bone marrow transplant is the only known cure for sickle cell disease. Transplants are complex and risky procedures and currently are an option only for a carefully selected subset of patients with severe complications.

To be eligible, a child would need bone marrow or stem cells from a "matched" donor with a low risk of rejection. Even then, the procedure has significant risks and there's always the chance of rejection of the transplanted marrow.

But even without a cure, kids with sickle cell disease can lead relatively normal lives. Medicines are available to help manage the pain, and immunizations and daily doses of penicillin (an antibiotic) can help prevent infection.

Infection used to cause many deaths in infants and young children with sickle cell disease, but thanks to penicillin (or a similar antibiotic, amoxicilin) and appropriate immunizations, kids are much more likely to live longer, healthier lives. Although penicillin isn't a cure, it can help prevent life-threatening infections due to bacteria that cause serious infections in the blood, meningitis, and pneumonia.

Most kids will require two daily doses of penicillin, as prescribed by their doctors, until they're at least 5 years old (and often older). They also should be fully immunized with the regular childhood vaccinations, as well as the pneumococcal vaccine and influenza and meningococcal vaccines. Folic acid supplements can help them continue to produce new RBCs.

Sometimes, kids who develop serious complications (such as recurrent acute chest syndrome, especially severe anemia, or stroke) may receive regular transfusions of red blood cells to prevent or treat these complications.

In 1998 the U.S. Food and Drug Administration (FDA) approved the drug hydroxyurea for use in adults with sickle cell disease; while it still has not been officially approved for use in children, it is now commonly used by pediatric specialists in certain circumstances.

Hydroxyurea increases the amount of fetal hemoglobin in blood cells, which interferes with the sickling process and makes RBCs less sticky. This helps decrease the frequency and intensity of painful episodes and other complications such as acute chest syndrome. Hydroxyurea has been proved to decrease pain and other complications in kids and adults.

When to Call the Doctor

Seek emergency medical attention immediately if your child develops any of the following:

• fever of 101ºF (38ºC) or higher
• pain that isn't relieved by oral medication
• chest pain
• shortness of breath or trouble breathing
• extreme fatigue
• severe headaches or dizziness
• severe stomach pain or swelling
• jaundice or extreme paleness
• painful erection in males
• sudden change in vision
• seizures
• weakness or inability to move any part of the body
• slurring of speech
• loss of consciousness
• numbness or tingling

Caring for Your Child

Your child should receive regular care from your primary care doctor as well as a hematologist (a blood specialist) or a sickle cell specialty clinic. It's important to share your concerns and discuss any new symptoms or complications with your child's health care team.

Your child also should drink lots of fluids, get plenty of rest, and avoid extreme temperatures.

Most people with sickle cell disease now live into middle age and often well beyond. A critical time is the first few years of life, which is why early diagnosis and treatment are so important.

Reviewed by: Robin Miller, MD
Date reviewed: September 2012