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Diseases

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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Overview



What is sickle cell anemia?

How is sickle cell anemia inherited?


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

How is sickle cell anemia inherited?

Sickle cell anemia is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[2] In regards to sickle cell anemia, a person who carries one copy of the mutated gene is said to be a carrier for the condition, or to have sickle cell trait. When two people who are carriers of an autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will have the condition, a 50% (1 in 2) chance that the child will be a carrier like each of the parents, and a 25% (1 in 4) chance that the child will not have the condition and not be a carrier.
Last updated: 12/7/2010

References
  1. Sickle cell anemia. MedlinePlus. February 2011; http://www.nlm.nih.gov/medlineplus/ency/article/000527.htm. Accessed 11/10/2011.
  2. Sickle Cell Disease. Genetics Home Reference. February 2007; http://ghr.nlm.nih.gov/condition/sickle-cell-disease. Accessed 11/9/2011.