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Sickle cell anemia - Sickle cell disease (SCD)

It's a disease of the blood that gets its name because sickle cells look like a farm tool called a sickle. Sickle cell disease (SCD) and its variants are genetic disorders of mutant hemoglobin's.

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People who have the disease usually receive the diagnosis as infants. The disease causes red blood cells to change from healthy, round red blood cells to sickly and crescent-shaped ones. The disorder causes anemia and pain, among other problems. Sickle cell anemia is one form of sickle cell disease - a category of blood disorders caused by defective hemoglobin. Hemoglobin is a substance in all red blood cells that enables them to carry oxygen from your lungs, through your bloodstream, to all parts of your body.

Sickle cell anemia affects mainly blacks, though people of South American, Southern European or Middle Eastern descent also are at risk. A baby born with sickle cell anemia inherits a gene for the disorder from each parent. Some people inherit only one gene for the disease. This is referred to as having the sickle cell trait. People who have the sickle cell trait don't develop the disease, but they can pass the gene on to their children. Almost 10 percent of black Americans carry the sickle cell gene.

There's no cure for sickle cell anemia, although gene therapy may someday provide the answer. However, treatments can relieve your symptoms and prolong your life. With proper treatment, many people with sickle cell anemia lead productive lives and enjoy reasonably good health into their 40s and beyond.

Signs and symptoms

Signs and symptoms of sickle cell anemia vary from person to person. People with the sickle cell trait ordinarily have no symptoms or problems. Some people have mild symptoms. Other people have severe symptoms and need frequent hospitalization.

Signs and symptoms of the disease include:

  • Anemia. In this state, your blood is low on red blood cells. Sickle cells are fragile. They break apart easily and die, leaving you chronically short on red blood cells to carry oxygen to your tissues. Without enough red blood cells in circulation, your body can't get the oxygen it needs to feel energized. That's why anemia causes fatigue.

  • Episodes of pain. Periodic episodes of pain, called crises, are a major symptom of sickle cell anemia. Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels. Usually blood vessels in your chest, abdomen and joints are affected. Pain also occurs sometimes in bones. The pain may vary in intensity and can last for a few hours to a few weeks. Some people experience only a few episodes of pain. Others experience a dozen or more crises a year. If a crisis is severe enough, you may need hospitalization for painkillers to be injected into your veins (intravenously).

  • Hand-foot syndrome. Swollen hands and feet are often the first signs of sickle cell anemia in babies. The swelling is caused by sickle-shaped red blood cells blocking blood flow out of the hands and feet. The condition — hand-foot syndrome — is often accompanied by pain and fever.

  • Jaundice. Jaundice is a yellowing of the skin and eyes that occurs because of liver damage or dysfunction. Occasionally, people who have sickle cell anemia have some degree of jaundice because the liver, which filters harmful substances from the blood, is overwhelmed by the rapid breakdown of red blood cells. In people with dark skin, jaundice is visible mostly as yellowing of the eyes.

  • Frequent infections. Sickle cell anemia may make you more vulnerable to infections. The risk of infection increases because sickle cells damage your spleen, an organ that filters out germs from your blood and makes certain proteins (antibodies) that counteract foreign substances in your body. Doctors commonly give infants and children with sickle cell anemia antibiotics to prevent potentially life-threatening infections, such as pneumonia.

  • Stunted growth. Red blood cells provide your body with the oxygen and nutrients you need for growth. A shortage of healthy red blood cells in sickle cell anemia can slow growth in infants and children and delay puberty in teenagers.

  • Vision problems. Some people with sickle cell anemia experience vision problems. Tiny blood vessels that feed your eyes may become plugged with sickle cells. This can damage the retina — the portion of each eye that processes visual images.

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