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Sickle Cell Anemia

Sickle cell anemia is a hereditary blood disorder that causes red blood cells to become abnormal and rigid in shape. Sickle cell has an autosomal recessive pattern of inheritance from the parents. Autosomal recessive pattern is similar to the mechanism in which blood type, hair color and eye color are inherited from ones biological parents. Sickle cell is caused by a point mutation on the βglobin chain of hemoglobin. The loss of red blood cell elasticity is central to the pathology of sickle-cell disease. Unlike normal red blood cells that are quite elastic, sickle cell red blood cells are unable to pass through narrow capillaries leading to pain and vessel occlusion. The actual anemia of the sick cell anemia is caused by haemolysis, which is the destruction of the red blood cells because of their abnormal shape. The patients that have sickle cell disease complain of sudden pain throughout the body and dizziness. These symptoms are due to the fact that the abnormally sized and shaped red blood cells aren’t able to move about freely in the body causing irregular blood flow leading to pain and insufficient oxygen to the brain causing dizziness. The most common symptom of sickle cell anemia is fatigue, shortness of breath, dizziness headaches, and coldness in hands and feet. The signs and symptoms also vary from some people having mild symptoms to other who are often hospitalized for treatment. Although millions of people worldwide are affected by sickle cell anemia it is most common in people whose ancestors come from Africa. In the US sickle cell affects 70,000 to 80,000 Americans. The disease is estimated to occur in 1 in 500 African Americans. Sickle cell can be induced by the addition of

sodium metabisulfite and seen on a blood film. The presence of sickle cell can also be detected with the sickle solubility test. A mixture of hemoglobin is a reducing solution gives a turbid appearance while on the other hand normal HB gives a clear appearance. Although there is not a widely accepted cure for sickle cell mild pain medicine is treated at home with over the counter pain killers. Children that are diagnosed with sickle cell at an early age will undergo close observation by a haematologist and will take a 1 mg dose of folic acid for the rest of their life. Some of the other widely used treatments to reduce the symptoms of sickle cell include bone marrow transplants, transfusion therapy, hydroxyurea, acute chest crisis, vaso-occlusive crisis, malaria chemoprophylaxis, and penicillin. While the life expectancy for people with sickle cell anemia is reduced some patients go without symptoms for years of their life. On the other hand some patients are not able to live a normal life and cannot survive infancy or early childhood. The causes for death of patients with sickle cell anemia include bacterial infections, stroke, bleeding in the brain, kidney failure, or heart failure. The number one way to help prevent sickle cell is for families to get genetic counseling to reduce the risk of having a child that obtain sickle cell anemia genetically.

Works Cited "How Is Sickle Cell Anemia Treated?" - NHLBI, NIH. N.p., n.d. Web. 13 Apr. 2014. "OMIM Entry - # 603903 - SICKLE CELL ANEMIA." OMIM Entry - # 603903 - SICKLE CELL ANEMIA. N.p., n.d. Web. 14 Apr. 2014. "Rare Genetic Disorders: Learning About Genetic Disease Through Gene Mapping, SNPs, and Microarray Data." Nature.com. Nature Publishing Group, n.d. Web. 13 Apr. 2014. "Sickle Cell Disease." - Genetics Home Reference. N.p., n.d. Web. 11 Apr. 2014. "Sickle Cell Disease (Sickle Cell Anemia) Symptoms, Causes, Treatment - What Is the Outlook (prognosis) for Patients with Sickle Cell Anemia? - MedicineNet." MedicineNet. N.p., n.d. Web. 13 Apr. 2014. "What Are the Signs and Symptoms of Sickle Cell Anemia?" - NHLBI, NIH. N.p., n.d. Web. 12 Apr. 2014.