1. Sickle Cell Anemia

2. Sickle Cell Anemia An inherited form of anemia, sickle cell, is a disease in which there aren’t enough healthy red blood cells to carry sufficient amounts of oxygen throughout the body.

3. Alternative Names • SCD • HbS Disease • Herrick’s Anemia • Hemoglobin S Disease • Sickle Cell Disease • Sickle Cell Disorder • Sickling disorder due to Hemoglobin S

4. Who is Most Likely to Get Sickle Cell Anemia? Ethnicity Gender • Individual’s with African, Spanish, Mediterranean, Middle Eastern, and Indian ancestry are most likely to inherit the gene for sickle cell anemia. • The male to female ratio of sickle cell anemia is equal because the gene for sickle cell anemia is not sex-linked.

5. Symptoms To detect sickle cell anemia, a blood test is taken and screened for hemoglobin S. If it is present in high amounts, then the individual likely has sickle cell anemia…. • Sickle cell anemia affects the blood systems of the body. It drastically reduces the amount of healthy red blood cells produced and instead produces sickle shaped cells. • Sickle cell anemia cannot be directly detected by looking at an individual but some complications do include jaundice, a yellowing of the skin, and skin ulcers, open sores generally found on the legs.

6. Symptoms To confirm the diagnosis, a blood sample would be checked for high amounts of sickle cells. A sickle cell is rigid and sticky and is shaped like a crescent moon. Additional symptoms include…. • Episodes of chronic pain, known as crises • Hand-foot syndrome, swelling of the hands and feet due to sickle cells blocking blood flow • Jaundice, yellowing of the skin, a result of the liver being overwhelmed with the rapid breakdown of red blood cells • Frequent infections, due to damage to the spleen from sickle cells • Delayed Growth, from a shortage of red blood cells • Vision Problems, the tiny blood cells in the eyes can become clogged due to the sticky nature of sickle cells which damages the retina

7. Sickle Cells Sickle cell’s are irregularly shaped(in the form of a crescent moon) causing them to get stuck in small blood vessels. This can slow and even block blood and oxygen flow from getting to certain parts of the body.

8. How Common is Sickle Cell Anemia? • Worldwide, statistics have shown that for every 1 million people, 8 are affected. • Yet, the rate in the United States is approximately 1 in 1,000 individuals. • Even greater, the ratio of African Americans with sickle cell anemia is thought to be around 1 in every 400 people.

9. Fatality The life expectancy of the red blood cells of the body is shortened as well. Normal red blood cells are expected to live for around 120 days, but sickled cells only live for 10 to 20 days. • Sickle Cell Anemia is not a deadly disorder, but it does complicate simple infections, such as pneumonia, and makes them a much greater risk. • Life expectancy is shortened. Studies have shown an average of 48 years in females and 42 years in males.

10. Testing & Diagnosing for Sickle Cell Anemia • A blood sample is taken as part of routine newborn screening at the hospital and checked for hemoglobin S. If it is present in high amounts, the individual most likely has sickle cell anemia and additional tests will be taken to confirm diagnosis. This is usually as simple a another blood sample to check for sickle, crescent shaped cells. • Sickle cell anemia can be tested for at all stages of life, even from inside the mother’s womb.

11. Treatments and Cures • There is only one potential cure for sickle cell anemia, a bone marrow transplant, but the risks are high, including death, and it is incredibly hard to find a donor. • Most treatment is aimed at preventing crises and further complications…

12. Specific Treatments • Antibiotics, such as penicillin, are used to fight infections that are more serious in sickle cell anemia individuals, like pneumonia. • Pain-relieving medications are used to lessen the pain of crises. • Blood transfusions are removed from a donor and inserted into intravenously into a person with sickle cell anemia to provide more healthy red blood cells. • Supplemental oxygen is helpful in relieving pain is crises. • Gene therapy is only an experimental treatment thus far. Since sickle cell anemia is caused by only a single defective gene, scientists are exploring the possibilities of inserting a normal gene into the bone marrow of sickle cell anemia individuals, and even turning off the defective gene and reactivating another!

13. Support • The Sickle Cell Foundation Support Group, Inc. is dedicated to helping those afflicted with the disease and educating the public about sickle cell anemia. • Their website: http://www.sicklecellsupportgroup.org/

14. Interesting Facts • Individuals who carry the sickle cell trait have more resistance to malaria than individuals who do not. This is why sickle cell anemia is more common in malaria stricken regions. • Sickle cell anemia is the most severe form of anemia in the wide range of Sickle Cell Diseases. • 1 in every 12 Africans has the trait for sickle cell anemia, but only 1 in 400 is affected by the disease. • More than 70,000 Americans have sickle cell anemia

15. Chromosome • The single gene that codes for the beta subunit of the hemoglobin protein(the hemoglobin molecule has two parts; an alpha and a beta) is located on chromosome 11.

16. Inheritance Pattern • Sickle cell anemia is received through an autosomal recessive inheritance pattern. This means that the mother and father both have to pass on the defective gene to their child for it to be affected.

17. Works Cited • "Sickle Cell Anemia, Other Names." National Heart, Lung and Blood Institute. Web. 22 Jan. 2011. <http://www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_OtherNames.html>. • "Sickle Cell Anemia Overview." NetWellness Homepage. Web. 22 Jan. 2011. <http://www.netwellness.org/healthtopics/sicklecell/sicklecelloverview.cfm>. • Staff, Mayo Clinic. "Sickle Cell Anemia - MayoClinic.com." Mayo Clinic. Web. 24 Jan. 2011. <http://www.mayoclinic.com/health/sickle-cell-anemia/DS00324>. • "Facts About Sickle Cell Disease." Welcome To Brookdale University Hospital & Medical Center. Web. 25 Jan. 2011. <http://www.sicklecellbrooklyn.org/sicklecelldisease.html>.