Gene Therapy helps curing hemophilia
Hemophilia is an inherited disease that prevents the patient from
forming blood clots effectively. People who are not infected with hemophilia
have a normal way of recovering. When their tissues in the body, both
inside and outside, are injured and damaged, blood vessels might get injured as
well, thus the blood is exposed and leaks out from the hole of the cut, bruise
or internal hemorrhage. When people experience being injured, the platelets
that flow in the blood are extremely essential cells that are required to
cluster and cover the hole of the injury, enabling the blood to stop flowing
out.
However when one has
hemophilia, injuries may result to continuous bleeding that can possibly be
detrimental to one’s life. The patient may experience one of the two
effects. The first being life-imperiling bleeding injuries that have no
relation to traumas, and the other being light forms of the disease with
non-critical minor injuries, however major traumas may occur that highly risks
the patient’s well being, in which these include car accidents and surgery.
In addition, for a patient to have hemophilia means to have a gene mutation in
their body. In other words, the proteins responsible for blood clotting must
have experienced substitution, inversion, deletion or insertion. Blood clotting
proteins of Factor VIII and IX are predominantly the factors that were mutated.
Estimated to be around 85% of the Hemophilia patients are infected with
Hemophilia A, in which the body produces too little or no Factor VIII.
Mutations of this particular factor are 6% due to large deletions, 43% due to
substitution or 51% due to inversions. On the other hand, Hemophilia B is a
case where in the patient has a flaw in their Factor IX gene, in which it is
caused by deletions or substitution.
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Figure 1: How
Hemophilia Works
Source: www.hemophilia.ca/en/bleeding-disorders/hemophilia-a-and-b/the-clotting-problem-in-hemophilia/ |
Figure 1 above compares the blood clotting process happens in
normal person and hemophilia patient. In a normal person as the bleeding occur
the blood vessels in the area constrict and are starting to produce platelet
and fibrin clot to stop bleeding. But on hemophilia patient, the vessels start
producing platelet and fibrin clot but the process are not complete to stop the
bleeding.
Gene therapy is the process of introducing healthy genes into the
human body, or other mammalian beings. The treatment mainly focuses on genetic
diseases by making a defective mutated gene come in contact with a healthy
functional gene as to alter the resulted proteins of the gene that is the main
source of the disease.
This treatment has two different approaches, they are known as the
germ-line gene therapy and somatic cell gene therapy. The germ-line gene
therapy targets gametes cells in the gonad organs. It enables healthy
functional genes to be injected into either the zygote or an early embryo as
to, hopefully cure the patient, as well as pass it down to their offspring and
other future generations. On the other hand, the somatic cell gene therapy targets
the other cells of the body. As it does not include sex cells, it has no
possibilities of passing down the changes to their children or further
generations.
For gene therapy to become a revolutionary breakthrough for
mankind, we must first invent a way for gene delivery. Researchers have
discovered a particular method that utilizes carriers or "vectors"
where the genes are kept and given to the patient's body. Certain viruses act
as vectors, in which the virus is genetically engineered and its
"bad" DNA is deactivated as to contain un-harmful human DNA.
There are two ways for a virus vector to infect an infected cell.
The first method is by exposing the virus to the cell outside the body. The
cells of the patient are extracted and brought into a laboratory, where in it
comes in contact with the virus vector. Once the new gene has infected the
defective cells, it is returned back to the patient.
In contrast, the second method is directly placing the virus
vector into the patient's body. The gene will manage on its own to find the
infected cell, where it will have to go to the cell's nucleus then become
united within the human DNA. Once done, it needs to be activated, thus
producing the needed protein. For the cell or vector to be inserted into the patient's
body, doctors utilize intravenous infusion or injection into a body cavity or a
tumor. Using this particular method for gene therapy might not be the only one,
as gene therapy is still undergoing research, thus future developments will
possibly invent other techniques.
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| Figure 2: Using vectors to transfer new healthy genes to the cells in the body Source: http://ghr.nlm.nih.gov/handbook/therapy/procedures |
One benefit of using
gene therapy for curing hemophilia disease that it gives hope to the
hemophilia patients that this disease can be cured and does not use so many
chemicals to the patient’s body which might cause various complications to
other body systems.
Despite the benefits, gene therapy is currently still being
researched and experimented on to ensure its safety and effectiveness.
According to betterhealth.vic.gov.au, between 1989 and 2010, 1698 clinical gene
therapy trials were conducted. However it resulted to only less than 1% trials
being a success and showed effective results with clinical benefits.
Researchers are still studying on how to correctly deliver and activate the
cell, how to avoid immune response that could harm the body and how to avoid
disrupting important genes in target cells.
Gene Therapy has various ethical and moral issues. People tend to
believe when gene therapy becomes known, researchers may start to have the same
aim as genetic engineering through the use of gene therapy. People fear that
normal and common characteristics of people will be considered as 'subnormal'
and more discrimination among society will occur. Furthermore, another issue is
concerned with money. This extremely common issue explains that gene therapy
might be labelled with quite an expensive price, thus the poor is unable
to afford the procedure and only the rich is capable of getting the
treatment.
In conclusion, gene therapy might be one interesting solution that
hemophilia patients can try but first it has to be proven flawless so this
solution can be well accepted by all people around the world and it might take
very long time.
Bibliography:
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<http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Gene_therapy>.
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Medicine." Gene Therapy. N.p., n.d. Web. 06 Oct. 2014.
<http://www.ndsu.edu/pubweb/~mcclean/plsc431/students/brandi.htm>.
3. "Gene Therapy
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<http://learn.genetics.utah.edu/content/genetherapy/gtsuccess/>.
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5. "Challenges in Gene
Therapy?" Challenges in Gene Therapy? N.p., n.d. Web. 07 Oct.
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6. ScienceDaily. ScienceDaily, n.d. Web. 07
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Therapy?" Genetics Home Reference. N.p., n.d. Web. 05 Oct. 2014.
<http://ghr.nlm.nih.gov/handbook/therapy/genetherapy>.
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