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sickle cell disease

Three generations of women sitting on a rock in the woodsSickle cell disease is a genetic disease that is a form of inherited anemia arising from problems with the structure and function of red blood cells. Typically, red blood cells are flexible and round allowing them to move easily through blood vessels. With sickle cell disease, those red blood cells are instead sticky and rigid, making them look like sickles or crescent moons. This sickling causes the red blood cells to slow down or cause blockage as they attempt to move throughout the blood vessels in the body, causing unpredictable and excruciating pain. 

Sickle cell disease is a serious, progressively debilitating genetic disease that leads to organ damage and shortened lifespan1,2. The disease is caused by production of abnormal hemoglobin, called sickle hemoglobin, in red blood cells.3

What are the symptoms?

Early signs and symptoms of sickle cell disease include swelling of the hands and feet; symptoms of anemia, including fatigue, or extreme tiredness; and jaundice or discoloration of the skin. Over time, sickle cell disease can lead to complications such as infections, delayed growth and episodes of pain, called pain crises as well as acute chest syndrome (a condition characterized by chest pain, cough, fever, low oxygen level and breathing problems) and stroke. Most children who have sickle cell disease can be pain-free between crises. But adolescents and adults may also suffer from chronic, ongoing pain.4

What causes it?

Sickle cell disease is an inherited disease caused by a defect, a single mutation, in the beta globin gene that helps make adult hemoglobin.Abnormal hemoglobin, called hemoglobin S, causes sickle cell disease. 

How is it diagnosed?

A doctor can diagnose sickle cell disease based on the results from various screening tests.

What is the individual impact?

Sickle hemoglobin tends to stick together, causing red blood cells to take on a characteristic sickle shape, become sticky and inflexible, and have a shorter lifespan. This results in severe anemia, blockage of blood vessels that causes severe and unpredictable pain and long-term blood vessel dysfunction (called vasculopathy). These lead to additional serious medical problems such as acute chest syndrome, stroke and organ failure that can lead to sudden death.

The blockage of blood vessels in some organs and other acute complications, such as stroke and infections have the potential to shorten an individual’s lifespan. Repeated blockages and other sickle cell complications can lead to damage of any organ system and are the primary cause of a shortened lifespan in people living with sickle cell disease.

How common is sickle cell disease?

Globally, millions of people are living with sickle cell disease. Descendants of those from certain areas of the world are more likely to have sickle cell disease, including:

  • Sub-Saharan Africa;
  • Spanish-speaking regions in the Western Hemisphere (South America, the Caribbean and Central America);
  • Saudi Arabia;
  • India; and
  • Mediterranean countries such as Turkey, Greece and Italy.6 

In the United States, it is estimated that sickle cell disease:

  • Affects approximately 100,000 Americans.
  • Occurs among about 1 out of every 365 Black or African-American births.
  • Occurs among about 1 out of every 16,300 Hispanic-American births.

Find out more.

You can find more information about sickle cell disease by visiting patient resources.

1Chaturvedi S, Ghafuri DL, Jordan N, Kassim A, Rodeghier M, DeBaun MR. Clustering of end-organ disease and early mortality in adults with sickle cell disease: A retrospective-prospective cohort study. Am J Hematol. 2018;93(9):1153-1160.  https://www.ncbi.nlm.nih.gov/pubmed/29981283. Accessed March 2019. 2Powers DR, Chan LS, Hiti A, Ramicone E, Johnson C. Outcome of sickle cell anemia: a 4-decade observational study of 1056 patients. Medicine (Baltimore). 2005;84(6):363-376.  https://www.ncbi.nlm.nih.gov/pubmed/16267411. Accessed March 2019. 3Kato GJ, Piel FB, Reid CD, et al. Sickle cell disease. Nat Rev Dis Primers. 2018;4:18010.  https://www.ncbi.nlm.nih.gov/pubmed/29542687. Accessed March 2019. 4National Heart, Lung, and Blood Institute (NHLBI). Sickle Cell Disease. https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease. Accessed March 2019. 5National Heart, Lung, and Blood Institute (NHLBI). Sickle Cell Disease. https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease. Accessed March 2019.  6Centers for Disease Control and Prevention (CDC). Data & Statistics on Sickle Cell Disease. https://www.cdc.gov/ncbddd/sicklecell/data.html. Published August 2017. Accessed March 2019.