Sickle Cell Disease

What Is Sickle Cell Disease?

Sickle cell disease is an inherited blood condition that affects how red blood cells work. Normally, red blood cells are round and flexible, which makes it easy for them to move through blood vessels and carry oxygen to the whole body. These healthy cells usually live about 120 days before the body replaces them.

In sickle cell disease, some red blood cells become stiff, sticky, and shaped like a crescent (or “sickle”). These cells don’t move as smoothly through blood vessels and can sometimes block blood flow. They also break down much faster—only lasting about 10–20 days. This leads to anemia (not having enough red blood cells) and can cause pain and other health problems.

Sickle cell disease is most common in people of African or Caribbean descent, but it’s also found in people with roots in the Middle East, India, Latin America, or the Mediterranean. In the U.S., about 1 in every 500 African American babies is born with some form of the disease.

Sickle Cell Trait

Sickle cell trait means you carry one normal hemoglobin gene and one sickle hemoglobin gene. About 1 in 12 African Americans have it. Most people with sickle cell trait stay healthy and never have symptoms. However, if both parents have the trait, their children could be born with sickle cell disease. A genetic counselor can help you learn about your family’s risk and make informed choices about growing your family. 

What Are the Types of Sickle Cell Disease?

There are different types of sickle cell disease. Three of the most common are:

Sickle Cell Anemia (hemoglobin SS)

The most common form, with significant anemia and often with the most severe complications

Hemoglobin S-Beta Thalassemia

Inheritance of both the sickle cell and thalassemia gene; less severe anemia than hemoglobin SS; may have similar although less severe degree of complications

Sickle Cell-hemoglobin C Disease (hemoglobin SC)

Milder degree of anemia and complications

How Is Sickle Cell Disease Diagnosed?

Sickle cell disease is most often diagnosed through newborn screening.

The state of Illinois performs a newborn screening test on all infants within the first few days of life to detect serious and life-threatening diseases such as sickle cell disease. If newborn testing is positive for sickle cell disease, the infant should be referred to a comprehensive sickle cell program where family history and additional testing will be done to confirm the diagnosis.

Early diagnosis is important because young children with sickle cell disease are at an increased risk of infection and other complications.

What Are the Potential Complications of Sickle Cell Disease?

Anemia

The most common finding in all forms of sickle cell disease: Stiff, sticky red blood cells block the blood vessels and break apart causing a decrease in red blood cell number. Severe anemia can make a child look pale and tire easily because of a decreased ability to carry oxygen to the body; normal growth and development may also be delayed.

Painful crisis (vaso-occlusive crisis)

When sickled blood cells clog a blood vessel, blood flow is cut off causing variable degrees of pain. Pain may occur anywhere in the body including hands and feet (dactylitis - in infants and young children), chest, arms, back or legs.

Splenic dysfunction

Over time, the spleen (a body organ that is involved in fighting infection) becomes scarred due to progressive sickling and doesn't function normally. When this happens, there is an increased risk of serious infections which may be life-threatening especially for children under five years old.

Acute chest syndrome

This complication involves the clumping together of sickle cells that blocks blood and oxygen flow to a part of the lung. The condition can include fever, chest pain and breathing problems. It also may be life-threatening.

Splenic sequestration

This term describes pooling of blood in the spleen that can cause a sudden drop in hemoglobin. This severe anemia can sometimes be life-threatening.

Stroke

A sudden and severe complication of sickle cell disease that occurs when sickled cells block blood and oxygen flow to a part of the brain. Without treatment, a child who has had one stroke has a significant risk of recurrence.

Additional problems may occur due to the abnormal sickle cells and can affect any organ in the body:

• Jaundipreventativeing of eyes or skin
• Increased infections
• Bone and joint damage
• Gallstones
• Kidney damage
• Eye damage

How Is Sickle Cell Disease Treated?

Early diagnosis and prevention of complications are key when a child has sickle cell disease. While the only known cure is a stem cell transplant —which must be carefully evaluated and approved by a medical team—there are many effective treatments that help children stay healthier and improve quality of life. 

At Lurie Children's, we help manage sickle cell disease in our Comprehensive Sickle Cell Program. Treatment may include one or more of the following:

• Penicillin “prophylaxis," a twice-daily antibiotic to lower the risk of serious infections
• Pain medications to help manage discomfort during pain episodes
• Increased fluid intake to support healthy blood flow
• Blood transfusions, which may be recommended to prevent or treat complications. To make this as safe and effective as possible, we partnered with the American Red Cross to create the Sickle Cell Donor Program, which ensures patients receive blood that closely matches their own.
• Hydroxyurea, a medication that can reduce the number and severity of complications in some children
• Stem cell transplant, which may be an option for certain children as a potential cure

Resources

In this video presented by the National Heart, Lung, and Blood Institute, one of our patients and his mother talk about life with sickle cell disease.