Case study child with sickle cell anemia

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The mutations that cause sickle cell anemia have been extensively studied and demonstrate how the effects of mutations can be traced from the DNA level up to the level of the whole organism. Consider someone carrying only one copy of the gene. She does not have the disease, but the gene that she carries still affects her, her cells, and her proteins: There are effects at the DNA level. Normal hemoglobin left and hemoglobin in sickled red blood cells right look different; the mutation in the DNA slightly changes the shape of the hemoglobin molecule, allowing it to clump together. There are negative effects at the whole organism level Under conditions such as high elevation and intense exercise, a carrier of the sickle cell allele may occasionally show symptoms such as pain and fatigue. This is a chain of causation.
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A year-old woman with a history of sickle cell disease SCD presents to the clinic for follow-up after a hospitalization for a vaso-occlusive pain crisis complicated by influenza A. She has a history of an acute ischemic stroke at age 5 years and has received monthly, simple red cell transfusions since the stroke. Her last transfusion was approximately four months prior. The incidence of primary stroke in children with SCD is 0. Cooperative Study of Sickle Cell Disease.
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Sickle Cell Anemia

Alissia is no stranger to camp; she was a camper herself as a young girl with SCD. Her participation at Hole in the Wall Gang Camp external icon in Ashford, CT, as a child is primarily what inspired her to work at camp herself. Becoming a camp director enabled her to connect with kids with SCD more and to give back to the sickle cell community. They were all my babies, and I was responsible for them. I knew them all by name, and I knew their parents.
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Sickle cell anemia is a genetic disease caused by a mutation in the beta-globin gene responsible for producing an important subunit of hemoglobin. At the molecular level, abnormalities in the hemoglobin protein cause it to clump, which leads the red blood cells rbcs that carry hemoglobin to become misshapen. As a result, the rbcs cannot bind oxygen as efficiently and the body is deprived of oxygen anemia. The abnormally shaped rbcs also slow down blood flow and become clogged in narrow blood vessels, causing pain. There is no cure for sickle cell anemia, and the goal of treatment is to manage symptoms.
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