Sickle cell disease is an inherited blood disorder that affects nearly 100,000 people in the United States.
Red blood cells contain hemoglobin, a protein that carries oxygen in the blood. Normal red blood cells are round and flexible, which enables them to travel through small blood vessels to deliver oxygen to all parts of the body.
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Sickle cell disease causes red blood cells to form into a crescent shape, like a sickle. The sickle-shaped red blood cells break apart easily, causing anemia. Sickle red blood cells live only 10-20 days instead of the normal 120 days. The damaged sickle red blood cells also clump together and stick to the walls of blood vessels, blocking blood flow. This can cause severe pain and permanent damage to the brain, heart, lungs, kidneys, liver, bones, and spleen. Severe pain is an emergency called acute sickle cell crisis. A person may not know what brought on the pain, but infection and dehydration are common triggers.
Sickle cell disease is most common in Africans and African-Americans. It is also found in other ethnic and racial groups, including people from South and Central America, the Caribbean, Mediterranean countries, and India.
What Causes Sickle Cell Disease?
Sickle cell disease is caused by a genetic abnormality in the gene for hemoglobin, which results in the production of sickle hemoglobin. When oxygen is released from sickle hemoglobin, it sticks together and forms long rods, which damage and change the shape of the red blood cell. The sickle red blood cells causes the symptoms of sickle cell disease.
Children are born with sickle cell disease; it is not contagious. It occurs when a child inherits two sickle hemoglobin genes, one from each parent. About 2,000 babies are born with sickle cell disease each year in the United States. People who inherit only one sickle hemoglobin gene are carriers (sickle cell trait) and do not have anemia or painful sickle cell crises. They may, though, have a slightly higher incidence of certain conditions such as blood in the urine or urinary tract infections. About 2 million Americans have sickle cell trait.
What Are the Symptoms of Sickle Cell Crisis?
Symptoms of sickle cell crisis include:
Chest pain and difficulty breathing
Joint pain and arthritis and bone infarctions
Blockage of blood flow in the spleen or liver
Patients with sickle cell disease may develop severe pain in the chest, back, arms, legs, and abdomen. Pain can occur anywhere in the body. Sickle red blood cells in the lungs can cause severe illness with chest pain, fever, and difficulty breathing. Sickle cell disease can also cause permanent damage to the brain, heart, kidneys, liver, spleen, and bones. The severity and symptoms vary greatly from person to person, even within the same family.