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Causes
By Mayo Clinic staff
Sickle cell anemia is caused by a mutation in the gene that tells your body to make hemoglobin — the red, iron-rich compound that gives blood its red color. Hemoglobin is a component of every red blood cell. It allows red blood cells to carry oxygen from your lungs to all parts of your body, and to carry carbon dioxide waste from throughout your body to your lungs so that it can be exhaled.
Under normal circumstances, your body makes healthy hemoglobin known as hemoglobin A. People with sickle cell anemia make hemoglobin S — the S stands for sickle.
The sickle cell gene is passed from generation to generation in a pattern of inheritance called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene for a child to be affected.
People with sickle cell trait have one normal hemoglobin gene and one defective form of the gene. So their bodies make both normal hemoglobin and sickle cell hemoglobin. Their blood may contain some sickle cells, but they generally don't experience symptoms. However, they are carriers of the disease, which means they can pass the defective gene on to their children.
With each pregnancy, two people with sickle cell traits have:
- A 25 percent chance of having an unaffected child with normal hemoglobin
- A 50 percent chance of having a child who also is a carrier
- A 25 percent chance of having a child with sickle cell anemia
- Sickle cell anemia. National Heart, Lung, and Blood Institute. http://www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_All.html. Accessed Feb. 9, 2009.
- Sickle cell disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=sicklecelldisease. Accessed Feb. 9, 2009.
- Sickle cell anemia. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/sec11/ch131/ch131i.html#sec11-ch131-ch131i-238. Accessed Feb. 9, 2009.
- Rodgers GP. Specific therapies for sickle cell disease. http://www.uptodate.com/home/index.html. Accessed Feb. 9, 2009.
- Exjade (prescribing information). East Hanover, N.J.: Novartis; 2008
- Reproductive genetic testing. National Human Genome Research Institute. http://www.genome.gov/10004766. Accessed Feb. 9, 2009.
