Sickle Cell Disease
(Sickle Cell Anemia)
William C. Shiel Jr., MD, FACP, FACR
Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
- Sickle cell anemia (SCD) facts
- What is sickle cell anemia?
- How is sickle cell anemia inherited?
- What conditions promote the sickling (distortion) of the red blood cells in sickle cell anemia?
- How is sickle cell anemia diagnosed?
- What are the symptoms and treatments of sickle cell anemia?
- What is the outlook (prognosis) for patients with sickle cell anemia?
- Find a local Hematologist in your town
Sickle cell anemia (SCD) facts
- Sickle cell anemia (SCD) is an inherited disorder of the hemoglobin in blood.
- Sickle cell anemia requires the inheritance of two sickle cell genes.
- Sickle cell trait, which is the inheritance of one sickle gene, almost never causes problems.
- Virtually all of the major symptoms of sickle cell anemia are the direct result of the abnormally shaped sickled red blood cells blocking the flow of blood.
- The current treatment of sickle cell anemia is directed primarily toward managing the individual features of the illness as they occur.
What is sickle cell anemia?
Sickle cell anemia (sickle cell disease) is a disorder of the blood caused by an inherited abnormal hemoglobin (the oxygen-carrying protein within the red blood cells). The abnormal hemoglobin causes distorted (sickled) red blood cells. The sickled red blood cells are fragile and prone to rupture. When the number of red blood cells decreases from rupture (hemolysis), anemia is the result. This condition is referred to as sickle cell anemia. The irregular sickled cells can also block blood vessels causing tissue and organ damage and pain.
Sickle cell anemia is one of the most common inherited blood anemias. The disease primarily affects Africans and African Americans. It is estimated that in the United States, some 90,000 to 100,000 Americans are afflicted with sickle cell anemia. Overall, current estimates are that one in 500 U.S. African American births is affected with sickle cell anemia.
How is sickle cell anemia inherited?
Sickle cell anemia is inherited as an autosomal (meaning that the gene is not linked to a sex chromosome) recessive condition. This means that the gene can be passed on from a parent carrying it to male and female children. In order for sickle cell anemia to occur, a sickle cell gene must be inherited from both the mother and the father, so that the child has two sickle cell genes.
The inheritance of just one sickle gene is called sickle cell trait or the "carrier" state. Sickle cell trait does not cause sickle cell anemia. Persons with sickle cell trait usually do not have many symptoms of disease and have hospitalization rates and life expectancies identical to unaffected people. When two carriers of sickle cell trait mate, their offspring have a one in four chance of having sickle cell anemia. (In some parts of Africa, one in five persons is a carrier for sickle cell trait.)
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