FINAL POST

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.

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. 

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:

1.    "Gene Therapy - Better Health Channel." Better Health Channel. N.p., n.d. Web. 06 Oct. 2014. <http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Gene_therapy>.

2.    "Gene Therapy: Revolutionizing Medicine." Gene Therapy. N.p., n.d. Web. 06 Oct. 2014. <http://www.ndsu.edu/pubweb/~mcclean/plsc431/students/brandi.htm>.

3.    "Gene Therapy Successes." Gene Therapy Successes. N.p., n.d. Web. 06 Oct. 2014. <http://learn.genetics.utah.edu/content/genetherapy/gtsuccess/>.

4.    "Gene Therapy." Gene Therapy. N.p., n.d. Web. 07 Oct. 2014. <http://www.ama-assn.org/ama/pub/physician-resources/medical-science/genetics-molecular-medicine/current-topics/gene-therapy.page>.

5.    "Challenges in Gene Therapy?" Challenges in Gene Therapy? N.p., n.d. Web. 07 Oct. 2014. <http://learn.genetics.utah.edu/content/genetherapy/gtchallenges/>.

6.    ScienceDaily. ScienceDaily, n.d. Web. 07 Oct. 2014. <http://www.sciencedaily.com/articles/g/gene_therapy.htm%27>.

7.    "What Is Gene Therapy?" Genetics Home Reference. N.p., n.d. Web. 05 Oct. 2014. <http://ghr.nlm.nih.gov/handbook/therapy/genetherapy>.

8.    "Gene Therapy." Gene Therapy. N.p., n.d. Web. 07 Oct. 2014. <http://www.ama-assn.org/ama/pub/physician-resources/medical-science/genetics-molecular-medicine/current-topics/gene-therapy.page>.