Sickle Cell Center Is Improving Outcomes for Patients

Red blood cells consist mostly of hemoglobin, the red protein that carries oxygen to every tissue in the human body. Sickle cell disease is caused by a mutation in one of the hemoglobin genes. Red blood cells with normal hemoglobin (hemoglobin A) are smooth and round and glide through blood vessels.

In people with sickle cell disease, the abnormal hemoglobin molecules (hemoglobin S) stick to one another and form long, rod-like structures, causing red blood cells to become stiff and sickle-shaped (like the letter "C"). These sickle cells clump up and get stuck in tiny blood vessels, impeding blood flow and oxygen delivery, causing pain and possibly organ damage.

Red blood cells normally circulate for about 120 days before they die, but sickle red cells have a short lifespan of 7 to 14 days. Although the body strives to compensate by making many more red cells each day, the level of hemoglobin in the blood of adults and children with sickle cell is usually lower than normal. (The medical term anemia means a low level of hemoglobin in the blood.)

Sickle cell disease affects millions of people worldwide, especially those whose families come from Africa, South or Central America, the Caribbean islands, Mediterranean countries (such as Turkey, Greece, and Italy), India and Saudi Arabia. In the United States, sickle cell disease is most prevalent among African-Americans.

In Milwaukee, the Children's Hospital of Wisconsin Sickle Cell Center provides multidisciplinary care for infants, children, and adults with the disorder. Staff members include physicians, nurses, social workers, child life specialists and psychologists, all of whom are dedicated to helping patients and families deal with every aspect of the disease and its treatment.

Sickle Cell Pain and Crisis
Many people with sickle cell disease have to endure episodes of intense pain caused when blocked blood vessels impede the flow of blood, oxygen and nutrients to parts of the body. These episodes, called sickle cell crises, can last for hours or days; for some people the pain can become chronic and disabling.

"Pain shows us what's happening in the organs and tissues of the body," explains John Paul Scott, MD, Medical College of Wisconsin Professor of Pediatrics and Medical Director of the Sickle Cell Center. "It starts when body tissues have been damaged."

Situations that decrease oxygen in the blood, particularly respiratory problems, can contribute to a sickle cell crisis. People who have sickle cell disease are highly vulnerable to viral and bacterial infections, but with vaccinations and prompt therapy of acute infections, serious problems can be prevented or treated.

A pattern of sickle cell crises can give doctors an idea about which patients might have more long-term problems. "My colleagues and I have an upcoming research study looking at how sickle crises start and what mechanisms may play key roles in the severe complications of the disease," says Dr. Scott, who practices at the Children's Hospital of Wisconsin Hematology/Oncology Clinic.

"There was a notion for awhile that you could have a lot of pain, be in the hospital, use a lot of narcotics, but your disease wasn't 'worse' than that of other people with the disease who don't experience much pain," says Dr. Scott. "It took some important research studies to show that if you're in the hospital frequently for pain, you'll have a lot more organ damage and could die many years earlier than the another person with sickle cell disease."

Treating Pain
Patients with mild or moderate pain are usually first advised to take over-the-counter medications such as ibuprofen (Motrin) or acetaminophen (Tylenol), drink plenty of fluids, and take baths or use heating pads to reduce symptoms. If the pain continues or worsens, doctors will often prescribe narcotics. These are strong and potentially dangerous medications that can lead to addiction, one of the many issues that have to be considered in any pain control plan.

Severe pain from a sickle cell crisis generally needs to be treated in a hospital, where medications and fluids can be given intravenously (IV) and the patient can be watched closely. Painful crises are the leading cause of emergency room visits and hospitalizations of people with sickle cell anemia.

Preventing Sickle Cell Crisis
Although sickle cell crises are unpredictable, there are some habits that seem to help decrease their severity and number:

• Quitting smoking
• Drinking at least 8 glasses of water every day to avoid dehydration
• Getting enough sleep and rest
• Exercising regularly but moderately (not to the point of exhaustion)
• Limiting the amount of alcohol you drink
• Avoiding extremes of heat and cold (e.g., wearing warm clothes in cold weather and staying out of cold water)
• Avoiding high altitudes, including airplane travel (unless the plane is pressurized with extra oxygen)
• Reducing mental and physical stress (e.g., from hard physical labor, extremes of heat and cold, or long work hours).
• Contacting your doctor immediately if you have any signs of an infection, such as a fever or trouble breathing
• Contacting your doctor immediately if you have any symptoms of a stroke, such as a bad headache, weakness on one side of the body, limping, or a sudden change in speech, vision, hearing, or behavior.

Regular medical checkups and treatment are absolutely vital:

• Checkups might include tests for possible kidney, lung, and liver diseases as well as any side effects from medicines you take. See a sickle cell anemia expert regularly.
• Get a flu shot and other vaccinations to prevent infections.
• See your dentist regularly to prevent infections and loss of teeth.
• See an eye doctor regularly to check for damage to your eyes.
• Get treatment and control any other medical conditions you might have, such as diabetes.
• Talk with your doctor if you're pregnant or planning to become pregnant. You will need special prenatal care.

Most adults and many children with sickle cell anemia will benefit from a medicine called hydroxyurea to reduce their number of painful crises and acute chest syndrome. Hydroxyurea is used only to prevent sickle cell crises, not to treat them when they occur.

Bone marrow transplantations can cure sickle cell disease, but the transplant must come from a full sibling who is an exact tissue match and who doesn't have sickle cell disease. As a result, currently only a few patients are eligible for these transplants.

Better Disease Management Possible with Early Diagnosis
Sickle cell disease is diagnosed with a simple blood test that is performed routinely on infants in most states, including Wisconsin. Early diagnosis allows families time to immediately start initiating therapy and discussing comprehensive preventive care.

With good health care, many people with sickle cell disease live close to normal lives and are in fairly good health much of the time. Dr. Scott and the specialists at the Children's Hospital Sickle Cell Center provide children with compassionate, comprehensive, cutting-edge medical care within a positive environment of hope and comfort.

John Paul Scott, MD, Medical College of Wisconsin Professor of Pediatrics, is Medical Director of the Children's Hospital of Wisconsin Sickle Cell Center.

This article includes information from the US Centers for Disease Control and Prevention (CDC), the National Human Genome Research Institute, and the National Heart Lung and Blood Institute.

MCW Health News presents up-to-date information on patient care and medical research by the physicians of the Medical College of Wisconsin.