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The genetic disorder I was told to research was the Sickle Cell Disease. I will explain what mutation causes this disease, the characteristics of it, and what has developed in the area of gene therapy because of it. The Sickle Cell Disease is an inherited disease. The gene for hemogoblin-S (which causes the disease) is the most common inherited blood condition in America; although most people only inherit one copy of the gene for HbS, while the other gene, hemogoblin-A, is normal, and can override HbS, blocking the disease. These people have the HbS trait, but not the disease, therefore leading a normal life. For an offspring to acquire the disease, both parents must have the HbS gene, yet the child only has a 25% chance of having Sickle Cells. You cannot catch the disease, you are born with it and it is present for life. There are many complications and harmful effects as the result of the Sickle Cell Disease. The disease causes hemoglobin in the red blood cells, when it does not receive sufficient oxygen, to form into long, sickle shapes with a sticky, chemical surface. When blood cells are this form, they cannot go through the capillaries, blocking off both blood and oxygen. Fortunately only 20% of all red blood cells become Sickle Cells; the sickle cells have a shorter life span; and most blood cells go through the capillaries before becoming sickle-shaped. The most painful effect known from Sickle Cell Disease are episodes of pain called Sickle Cell Crisis, where the body is in need of oxygen, either from physical activities or a sickle blood cell 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 shortness of breath. The other symptoms of Sickle Cells include: strokes, increased infections, early gallstones, yellow discoloring of eyes and skin, low blood cell counts (anemia), and delayed growth. For the cause of the Sickle Cell Disease, there has been many research going on in the area of gene therapy. Labs around the world are trying to fix the basic genetic defect, by placing the correct amino acid in the hemogoblin before or shortly after birth. This method would result in the cure of the root of the problem. Currently researchers are finding a safe way to perform this method. To try to ease the pain caused by Sickle Cell Disease, a substance that can prevent red blood cells from sickling without causing harm to other parts of the body, hydroxyurea was found to reduce the frequency of severe pain, acute chest syndrome and the need for blood transfusions in adult patients with sickle cell disease. Droxia, the prescription form of hydroxyurea, was approved by the FDA in 1998 and is now available for adult patients with sickle cell anemia. Studies will now be conducted to determine the proper dosage for children. The Sickle Cell Disease is a state of suffering, yet it is not as serious as it used to be, where children with the disease was not expected to live through childhood. Now with aggressive treatments, victims’ lives are prolongs and improving its quality; and with the researching completed, a full cure of the disease can be possible.


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