Wednesday, December 11, 2019

Sickle Cell Disease Essay Example For Students

Sickle Cell Disease Essay The genetic disorder I was told to research was the Sickle Cell Disease. I willexplain what mutation causes this disease, the characteristics of it, and whathas developed in the area of gene therapy because of it. The Sickle Cell Diseaseis an inherited disease. The gene for hemogoblin-S (which causes the disease) isthe most common inherited blood condition in America; although most people onlyinherit one copy of the gene for HbS, while the other gene, hemogoblin-A, isnormal, and can override HbS, blocking the disease. These people have the HbStrait, but not the disease, therefore leading a normal life. For an offspring toacquire the disease, both parents must have the HbS gene, yet the child only hasa 25% chance of having Sickle Cells. You cannot catch the disease, you are bornwith it and it is present for life. There are many complications and harmfuleffects as the result of the Sickle Cell Disease. The disease causes hemoglobinin the red blood cells, when it does not receive sufficient oxygen, to form intolong, sickle shapes with a sticky, chemical surface. When blood cells are thisform, they cannot go through the capillaries, blocking off both blood andoxygen. Fortunately only 20% of all red blood cells become Sickle Cells; thesickle cells have a shorter life span; and most blood cells go through thecapillaries before becoming sickle-shaped. The most painful effect known fromSickle Cell Disease are episodes of pain called Sickle Cell Crisis, where thebody is in need of oxygen, either from physical activities or a sickle bloodcell blocking blood passages that lead to organs. The first day is the worst,where devastating pain goes to the arm, leg, and back, along with the shortnessof breath. The other symptoms of Sickle Cells include: strokes, increasedinfections, early gallstones, yellow discoloring of eyes and skin, low bloodcell counts (anemia), and delayed growth. For the cause of the Sickle CellDisease, there has been many research going on in the area of gene therapy. Labsaround the world are trying to fix the basic genetic defect, by placing thecorrect amino acid in the hemogoblin before or shortly after birth. This methodwould result in the cure of the root of the problem. Currently researchers arefinding a safe way to perform this method. To try to ease the pain caused bySickle Cell Disease, a substance that can prevent red blood cells from sicklingwithout causing harm to other parts of the body, hydroxyurea was found to reducethe frequency of severe pain, acute chest syndrome and the need for bloodtransfusions in adult patients with sickle cell disease. Droxia, theprescription form of hydroxyurea, was approved by the FDA in 1998 and is nowavailable for adult patients with sickle cell anemia. Studies will now beconducted to determine the proper dosage for children. The Sickle Cell Diseaseis a state of suffering, yet it is not as serious as it used to be, wherechildren with the disease was not expected to live through childhood. Now withaggressive treatments, victims lives are prolongs and improving its quality;and with the researching completed, a full cure of the disease can be possible.Health Care

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