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Sickle Cell Anemia



Sickle Cell Disease is a genetic disorder of the blood, affecting approximately 72,000 individuals in the United States.  It is characterized by anemia, frequent infections, and unpredictable and severe pains in the back, chest, abdomen and limbs.  Sickle Cell Disease is most common among those of African descent.  An estimated 8 to 12 percent of African Americans carry the sickle cell gene.  It is also fairly common in people from Mediterranean countries, Middle East and India. 


Symptoms of Sickle Cell Disease may appear as early as in 6 months of age and include infections, pain and swelling of hands and feet, enlargement of the abdomen and heart.  It is caused by a defective gene, producing an abnormal form of hemoglobin.  Hemoglobin is the component of the red blood cell responsible for oxygen transport from the lungs to the tissues.  Red blood cells do not retain their normal disc shape once they release oxygen, instead they take on a sickle shape.  Their distorted shape makes it difficult for the red blood cells to pass through vessels, preventing oxygen and vital nutrients from reaching organs and tissues.  This manifests into intense pain and patients also become vulnerable to infections.  Blood flow to the brain may be affected and could lead to a stroke. 


Sickle Cell Disease is inherited as an autosomal recessive trait.  Both parents must be carriers and each must pass on the sickle cell gene for the child to be affected.  Individuals who carry the trait generally do not show any symptoms.  A simple blood test can determine whether an individual is a carrier or not.  People who are from an at risk population should be tested.   Diagnosis of the disease itself is accomplished through a test called electrophoresis. 


There is no cure for Sickle Cell Disease but various treatments are currently available.  Treatments are geared toward minimizing pain, reducing organ damage, and preventing infection.  These include pain medications, antibiotics for infections and high fluid intake to prevent dehydration.   Blood transfusions treat anemia by replenishing the red blood cell supply in the body.  In a small number of children, bone marrow transplant has cured them of sickle cell disease but careful consideration must be taken in screening prospective donors, especially relatives, to ensure that they are not affected or  are not carriers of the sickle cell gene.


Couples at risk for passing on Sickle Cell Disease should consider a new test called Pre-Implantation Genetic Diagnosis (PGD).  PGD ensures a couple that their children will not inherit the disease.



Click here for more information on PGD


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Last modified: 06/09/04