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Linear Sclerosis Case Study Essay

Decent Essays
1. As shown in this case study, the patient was hospitalized very often due to severe acute pain caused due to microvascular occlusion. There can be two possibilities for the symptoms of pain- increase in intra-medullary pressure or periosteum of the soft tissue of her bones. Her report shows a very high serum ferritin level which is due to mutation in hemochromatosis gene (HFE). This increased the level of iron in her body. Due to abnormal liver enzymes, the liver eventually stopped carrying out its normal function causing Alanine Aminotransferase(ALT) to increase. Her ALT level was persistently increasing which means she can be suffering from acute viral hepatitis. She is suffering from diabetes due to the formation of glycated protein. She didn’t get her periods on time because of the lack oxygen being transported throughout the body. Hypogonadotropic hypogonadism can be observed in her body due to some problem in the hypothalamus or pituitary gland. The reason behind abnormal FSH, LH and Oestradiol in her body is because of iron deposition in the endocrine gland. One more reason for the increase in iron level can be due to multiple blood transfusion in her past. It is appropriate to undergo chelation therapy since her liver iron…show more content…
This approach can be advantageous to beta-thalassemia. This approach will increase the ration of sickling haemoglobin vs non-sickling haemoglobin. When BCL11A is silenced in the mice, the stem cells cannot engraft in the bone marrow. This could deliver ineffective gene therapy, causing difficulty in blood formation. Knocking down of BCL11A provided many layers of engineering. The researchers used short hairpin RNA (shRNA) that inactivates BCL11A gene. ShRNA was inserted in microRNA where it was joined to the promoter of beta haemoglobin expression. This is how this whole bundle was inserted in
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