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.