2. Sickle Cell Anemia Kristi Maulding & Matt Isenburg

3. 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

5. 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.

6. 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

7. 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

8. Bibliography Book: The A-Z Reference Book of Syndromes & Inherited Disorders by Patricia Gilbert Website: http://www.genome.gov/10001219http://www.genome.gov/10001219 Video: http://www.youtube.com/watch?v=9UpwV1t dxcs http://www.youtube.com/watch?v=9UpwV1t dxcs