The genetic disorder I researched was 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 hemoglobin-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, hemoglobin-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 a result of Sickle Cell Disease. The disease causes hemoglobin in the red blood cells to form into long, sickle shapes with a sticky, chemical surface when it does not receive sufficient oxygen. When blood cells are in 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. These sickle cells have a shorter lifespan, and most blood cells go through the capillaries before becoming sickle-shaped. The most painful effect known from sickle cell disease is 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 shortness of breath. 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 sickle cell disease, there has been much 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 hemoglobin 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 ease the pain caused by Sickle Cell Disease, 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. Sickle Cell Disease is a state of suffering, yet it is not as serious as it used to be when children with the disease were not expected to live through childhood.
Now, with aggressive treatments, victims’ lives are prolonged and their quality is improving. With the completed research, a full cure for the disease may be possible. Health care.