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Genetic and Rare Diseases Information Center (GARD)

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Sickle cell anemia

Other Names for this Disease
  • HbS disease
  • Hemoglobin S Disease
  • Sickle cell disease
  • Sickling disorder due to hemoglobin S
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Your Question

Is it true that stem cell therapy is being used to treat sickle cell anemia?

Our Answer

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What is sickle cell anemia?

Sickle cell anemia is a disease in which the body produces abnormally shaped red blood cells that have a crescent or sickle shape. These cells do not last as long as normal, round, red blood cells, which leads to anemia (low number of red blood cells). The sickle cells also get stuck in blood vessels, blocking blood flow.[1] Signs and symptoms of sickle cell disease usually begin in early childhood and may include anemia, repeated infections, and periodic episodes of pain (called crises). This condition is caused by mutations in the HBB gene and is inherited in an autosomal recessive pattern.[2] Treatment typically focuses on controlling symptoms and may include pain medicines during crises; hydroxyurea to reduce the number of pain episodes; antibiotics and vaccines to prevent bacterial infections; and blood transfusions.[1]
Last updated: 11/10/2011

Is it true that stem cell therapy is being used to treat sickle cell anemia?

Yes, it is true that stem cell therapy is being used to treat sickle cell anemia. In fact, a small number of children with severe sickle cell disease have been cured through a blood stem cell transplant. The stem cells (immature cells that develop into blood cells) come from bone marrow, or less frequently from umbilical cord blood, usually donated by siblings who are a good genetic match.

Most children with sickle cell disease, however, do not have siblings who are good genetic matches. For this reason, researchers have recently begun performing stem cell transplants using umbilical cord blood from unrelated donors with apparent success. About 150 children worldwide with sickle cell disease have had blood stem cell transplants, and about 85 percent of them appear to be cured of the disease. However, this approach carries a high risk: about 5 percent of children who underwent bone marrow transplants died. The transplant did not cure the disease in another 10 percent. Gene therapy may someday offer a cure with less risk.

Currently, researchers are studying a number of new drug treatments, in addition to hydroxyurea, for reducing complications of the disease. Like hydroxyurea, decitabine and butyrate (a food additive) appear to cause the body to make a form of hemoglobin (fetal hemoglobin) that the baby makes before birth. Increased levels of fetal hemoglobin appear to help prevent red blood cells from sickling. Recent studies also suggest that inhaling the gas nitric oxide or taking an oral dietary supplement called L-arginine (which appears to boost the body’s production of nitric oxide) may also help prevent sickling, as may treatment with an antifungal drug called clotimazole or some blood-thinning drugs. There has already been a great deal of progress in medical care that reduces serious complications and improves survival in individuals with sickle cell disease. These and other new treatments may further improve the quality of life in affected individuals.[3]
Last updated: 4/14/2011