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
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
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
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.
