“Maybe a fairy tale, maybe a mystery, but sometimes the real heroes are found in the hearts of small children fighting big diseases.” – Unknown.
Imagine it’s Thanksgiving break. You finally get some time off from college to see your family. It’s a nice warm Saturday. You go outside to make barbecue chicken with your favorite recipe while your dog wags his tail and licks his lips as he excitedly follows you outside. Your friend joins you to help. Oh no! The spatula suddenly fell. You and your friend both reach down to grab it but neither of you saw the small rusty nail under the grill. As you both struggle to retrieve the spatula the rusty nail cuts you both. After a few minutes you realize your friend’s cut had stopped bleeding while yours keeps on continuously pouring blood. You’re now stunned and wondering why you can’t stop bleeding. Hmm, you wondered, what could this be? This my friend is the life of a hemophilia patient.
According to the Center for Disease Control, hemophilia is a genetic condition in which the blood does not clot properly and is X-linked recessive. Due to this, spontaneous bleeding can occur from injuries. Internal bleeding is also common, which can lead to permanent disability and can become deadly if the damages spread to organs. Genes known as factor VIII and factor IX create clotting factors within the body and act to clot the blood whenever there is a cut. Blood travels through our capillaries, arteries and veins; however, when there’s a tear within these we start to bleed. Platelets accompanied by clotting factors gather to close these regions whenever there is a cut. People with hemophilia do not have enough of one of the clotting factors, hence they bleed longer than normal people. If factor VIII is deficient, then that person is said to have hemophilia A and if factor IX is deficient the individual is said to have hemophilia B.
Currently, hemophilia is treated by taking injections which contain the missing clotting factors. This is done by injecting it directly into the patient’s vein. The problem with this is that the clotting factors will continuously decrease and must be replaced, hence the injection must be taken regularly. Imagine the immense pain small children and even adults must go through just for this treatment – this painful injection on a regular basis could torment anyone. What if there was a better way to treat the disease? What if the better way requires only a one-time injection? This is where gene therapy comes in.
Gene therapy is a method used to modify a person’s genes to cure or treat a disease. In this case, the defective genes which produce clotting factors VIII and IX can be replaced with functional copies. To do this, a vector is needed, which is used as a vehicle to deliver the genes. Liver cells produce clotting factors, hence the genes’ need to be incorporated into the liver cells. A functional version of the VIII and IX genes are incorporated in the vector for delivery. Once delivered to the liver intravenously, it is now able to produce functional clotting factors back into the blood and enable blood to clot as it normally would in a person without hemophilia. The benefit of this treatment is that once the defective genes are replaced by functional ones, they will continue to produce the clotting factors as opposed to the current treatment, where drugs containing the clotting factors have to be taken regularly.
Gene therapy should be the default treatment for hemophilia, as it is just a one-time injection and offers a possible cure to the disease unlike the current treatments. Currently, there are pharmaceutical companies such as Pifizer working on gene therapy treatments, however these treatments are still in clinical trials. The downside of gene therapy for hemophilia is the relatively high cost for a single treatment, but if we factor in the costs for the multiple treatments currently being used now, it would eventually surpass the cost of one gene therapy treatment. Although the cost may be alarming, it is still more cost effective than life-long treatments. Would you rather take painful injections multiple times a week for the rest of your life or take a one-time treatment as a potential cure?