Sickle Cell Disease

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Sickle Cell Disease Facts

Sickle cell disease is a group of disorders passed from parents to children (genetic) that includes sickle cell anemia. It is a condition in which the red blood cells can take on a curved shape, like a sickle. Normal red blood cells are round, soft discs, like doughnuts without holes. While 2.5 million Americans have the genetic trait for the disease, only 70,000 people in the United States have sickle cell disease. About 1,000 children are born with sickle cell disease in this country each year.

In sickle cell disease, red blood cells start out normal, but if they are stressed they become curved, hard, and sticky. When cells “sickle” it is hard for them to move through the bloodstream. Though they are very small, the sickle cells can damage the blood vessels, keep blood from flowing well, and cause pain and other damage.

Hemoglobin is the main part of red blood cells. It helps carry oxygen from the lungs to the rest of the body. Hemoglobin A is the normal type of hemoglobin; hemoglobin S and C are abnormal types. People with sickle cell disease make hemoglobin S (for sickle) instead of hemoglobin A. Red blood cells made of hemoglobin S don't live as long as type A, become stiff, sickle-shaped, blocking blood vessels so less blood reaches parts of the body. Tissue that does not receive a normal blood flow eventually becomes damaged, which is what causes the complications of sickle cell disease.

Complications include anemia, jaundice, and gallstones. Blood flow problems can cause lung damage (called acute chest syndrome), pain in the arms, legs, chest, and abdomen, stroke, and priapism (painful prolonged erection). Organs can be damaged by poor blood flow as well, and include the spleen, kidneys, and liver leaving young children highly vulnerable to bacterial infections.

Types

The most common types of sickle cell disease are Sickle Cell Anemia (SS), Sickle-Hemoglobin C Disease (SC), Sickle Beta-Plus Thalassemia, and Sickle Beta-Zero Thalassemia.

Symptoms

People with sickle cell disease usually begin having symptoms in early childhood. Children may be anemic (have a low number of red blood cells), experience episodes of pain that come back time and again, and common infections can lead to severe illness and death. Some people have mild symptoms, while others can be hospitalized for symptoms and/or complications from the disease. Anemia can cause shortness of breath, fatigue, and delayed growth and development in children. 

Diagnosis

Sickle cell disease is diagnosed with a complete blood count (CBC), and any of several specialized tests to detect sickle cell hemoglobin.  Currently every baby born in the United States gets tested for sickle cell.

References