Sickle Cell Anemia

Kristi Maulding &

Matt Isenburg

An abnormality on the structure of hemoglobin that causes red blood cells to elongate and become sickle

shaped instead of being round and smooth

Definitions

QuickTime™ and a decompressor

are needed to see this picture.

Symptoms

• Baby: Swelling on the short bones of the hands and feet because of clumping red blood cells. Infection is also common. Sometimes sequestration crisis enlarges the spleen.

• Older Children/Adults: Painful crises and fever can occur. Clumps can reduce or cut off blood supply for major organs such as the heart, brain, liver, and kidneys (paralysis can occur as a result). Physical exercise can be limited due to breathlessness and lack of exercise. Severe anemia can cause the person to become listless and pale. Enuresis (wetting) may be present due kidneys not concentrating the urine properly.

Treatments• Anesthetics• Penicillin when infection occurs• Pain relievers & water during

crisis-paralysis• Blood transfusion during severe

anemia • No extreme strenuous physical

exercise • Bone marrow transplants are

the only complete cure• Hydroxyurea is a new drug that

stimulates fetal hemoglobin to prevent sickling

Genes

• Only populations from Greece, South Turkey, Italy, and West Africa are affected.

• Affects the hemoglobin-beta gene on chromosome 11.

• Hemoglobin is called “hemoglobin S” when abnormal

Bibliography• Book: The A-Z Reference Book of

Syndromes & Inherited Disorders by Patricia Gilbert

• Website: http://www.genome.gov/10001219

• Video: http://www.youtube.com/watch?v=9UpwV1tdxcs