Pharmacogenomics Of Sickle Cell Disease

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Pharmacogenomics of Sickle Cell Disease
Hydroxyurea is a treatment therapy that is currently used to treat sickle cell disease. There are a total of 23 single nuclear polymorphisms (SNPs) that are involved with sickle cell disease. When hydroxyurea is given at an optimal maximum dose, it will act on the BCL11A gene and increase the fetal hemoglobin concentrations. There are a total of 5 SNPs that are associated with the BCL11A gene. Some parameters that were observed are differences in pharmacodynamic effects (PD), percent fetal hemoglobin (%HbF) and maximum tolerated dose (MTD). Hydroxyurea positively affected all of these parameters. It also helped tolerate the symptomatic effects of sickle cell disease. Patient reported outcomes allow practitioners to optimize dosage of hydroxyurea in conjunction with other medications. Thus far, hydroxyurea treatment has been effective in treating sickle cell disease.
Sickle cell disease is a chronic condition that a person can inherit from their parents in which it effects the globular structure of the patients red blood cells. A more sickle shaped structure, which can alter a person’s blood flow, replaces the more common globular structure. This impairment in blood flow can lead to blood clots, severe debilitating pain and damage to vital organs such as the liver, kidney and spleen. This disease currently affects over 90,000 people in the United States, with the majority of them being African American and

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