Sickle Cell Disease: Symptoms and Risk Factors

Sickle cell disease, also known as sickle cell anemia, is a genetic disease caused by a defective amino acid in the hemoglobin molecule of red blood cells. As a result, red blood cells take on an abnormal "sickle" shape and can clog small arteries, resulting in severe pain and tissue damage. The abnormal blood cells are destroyed by the body, resulting in anemia.

Individuals born with two sickle cell genes (one each from their mother and father) will develop the disease. Individuals with only one sickle cell gene are carriers for the disease: They are not themselves affected under normal circumstances, but they can pass along the gene to their children. For this reason, all newborn babies are screened for the disease at birth.

Symptoms

• Pain in the hands and feet
  
• Chest pain
  
• Shortness of breath
  
• Fever
  
• Fatigue
  
• Elevated heart rate
  
• Jaundice (yellow discoloration of the skin)
  
• Priapism (prolonged erection) occurs in up to 40 percent of individuals
  
• Delayed growth or delayed puberty
  
• Leg ulcers

Risk Factors

The disease occurs most often among people whose ancestry can be linked to sub-Saharan Africa, South and Central America, the Caribbean, India, and the Middle East and Mediterranean regions.

One study showed the disease to be about 300 times more common in African-Americans (approximately three per 1,000) than in Caucasians, and three times more common in Latinos than in Caucasians. Approximately one in 12 African-Americans carries a sickle cell gene.