Pharmacogenomics Of Sickle Cell Disease - 1444 Words

Pharmacogenomics of Sickle Cell Disease Abstract 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. Introduction 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 andShow MoreRelatedRecent Uses of DNA Technology Essays1020 Words   |  5 Pagesthat could be compared to the 1849 California gold rush, scientists began to try to find other uses for DNA. Since then, DNA has been used for many things such as finding criminals and confirming paternity/maternity. Also DNA has been used to track diseases and problems that start at the molecular level. Three of the newer advances in DNA technology are DNA F ingerprinting, Recombinant DNA (rDNA) and Paternity/Maternity Tests. DNA Fingerprinting, also known as DNA Profiling, is a method used to identifyRead MoreLifelong Health Benefits of Mandatory Genetic Screenings1497 Words   |  6 Pagesidentifying genetic disorders through the study of an individual’s DNA. They can be used to determine predisposition for various disorders such as Alzheimer’s, breast cancer, and sickle cell anemia. Genetic screenings inform individuals about their state of health and can help them make efficient choices in regard to disease treatments and prevention; however they have not gone without controversy. Many feel that such screenings can cause stigma and discrimination against individuals who have unfavorableRead MoreEssay about The Dangers of Race Based Medicine4235 Words   |  17 Pagesfor poor and underserved populations (Braun 162). NitroMed’s study marks a growing movement that has begun to cite genetic makeup, specifically race-related genetic makeup, rather than environmental or other confounding factors as the source of disease. This shift in presumed cause of health-related problems raises many troubling implications. With race-based therapeutics comes the assumption that there are biological differences between races. The dangers of such implications are vast, the mostRead MoreSocial Work Assessment At Baseline6383 Words   |  26 Pagesnegative opioid screens than non-IDU morphine/heroin users was observed. No correlation with any of the addiction severity and disability measures at baseline was found in this study. Hence, the general perception that IDU patients possess higher disease severity than non-IDU patients and would realise higher benefit from treatment could not be concluded from this study. The prevalence of co-occurring mental health disorders at baseline (51% depression, 54% BPD) is comparable to the prevalence