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Sickle Cell Anemia

Sickle Cell Anemia. By: TJ McDonald, Matt Falcione , Tim Swierzewski. What is it? 4. Inherited blood disorder Causes irregular formation of blood cells Defective hemoglobin Affects chromosome 11 “Sickle” or “crescent” shaped. What is a hemoglobin? 5 & 6.

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Sickle Cell Anemia

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  1. Sickle Cell Anemia By: TJ McDonald, Matt Falcione, Tim Swierzewski

  2. What is it? 4 • Inherited blood disorder • Causes irregular formation of blood cells • Defective hemoglobin • Affects chromosome 11 • “Sickle” or “crescent” shaped

  3. What is a hemoglobin? 5 & 6 • Protein carried by red cells 5 • Job: 6 • picks up oxygen (in lungs) • delivers it to the tissues • transport CO2 back from the tissues to the lungs

  4. Chromosome 11 Affected 3 • Mutation in a gene on chromosome 11 • Hemoglobin molecules don't form properly • These irregularly shaped cells get stuck in the blood vessels • Unable to transport oxygen effectively

  5. Why is this bad? 7 • Normal blood cells live: 120 days • Sickled blood cells live: 10-20 days • Not enough new blood cells made • Block blood flow in limbs and organs • Result: • cause pain and organ damage • risk of infection

  6. Who does it affect? 4 • Mostly Africans • 1 in 500 African American babies • Most common in: • Africa • India • Caribbean • Middle East • Mediterranean Area

  7. Diagnosis 1 • Blood test • Found at or before birth

  8. Symptoms 6 • Signs and symptoms vary • Some mild • Some very severe • Shortness of breath • Dizziness • Headaches • Coldness in the hands and feet • Paler than normal skin • Jaundice • Sudden Pain

  9. Sudden Pain 6 • Called a sickle cell crisis • Affects the bones, lungs, abdomen, and joints • Sickled red blood cells block blood flow • Painful crises at some point in their lives • Exact cause isn't always known

  10. Treatments? 2 & 3 • No widely available cure 2 • Cured by bone marrow or stem cell transplant • May be helped by: 3 • Blood Transfusions • Oral Antibiotics • Hydroxyurea

  11. Normal Red Blood Cell Sickled Red Blood Cell

  12. The Cause 2 • Given by parents • Two defective copies= Affected + Carrier • One defective copy= Unaffected + Carrier • No defective copies= Unaffected

  13. Resources • CDC - Sickle Cell Disease, Facts. (n.d.). Centers for Disease Control and Prevention. Retrieved April 10, 2013, from http://www.cdc.gov/ncbddd/sicklecell/facts.html • Sickle Cell Anemia Disease Profile. (n.d.). Oak Ridge National Laboratory. Retrieved April 10, 2013, from http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/sca.shtml • Sickle Cell Anemia Gene. (n.d.). Oak Ridge National Laboratory. Retrieved April 10, 2013, from http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/hbb.shtml

  14. Resources • Sickle Cell Disease. (n.d.). Learn Genetics. Retrieved April 10, 2013, from http://learn.genetics.utah.edu/content/disorders/whataregd/sicklecell/ • Sickle cell. (n.d.). Sickle Cell. Retrieved April 13, 2010, from sickle.bwh.harvard.edu/hemoglobin.html http://www.bio.davidson.edu/Courses/Molbio/MolStudents/spring2005/Heiner/hemoglobin.html • What Are the Signs and Symptoms of Sickle Cell Anemia?. (n.d.). NIH Heart, Lung and Blood Institute. Retrieved April 10, 2013, from http://www.nhlbi.nih.gov/health/health-topics/topics/sca/signs.html • What Is Sickle Cell Anemia?. (n.d.). NIH Heart, Lung and Blood Institute. Retrieved April 10, 2013, from http://www.nhlbi.nih.gov/health/health-topics/topics/sca/

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