Sickle Cell Anemia Summary

Summary-
This article is about an alternative way to treat Sickle Cell Anemia. Sickle Cell Anemia is caused by an inherited genetic mutation. The mutation prohibits oxygen from being transported to tissues. Typically, hemoglobin is made up of two alpha-globins and two beta-globins, which can each take or remove a molecule of oxygen. If a copy of the mutation is given by both parents, only defective beta-globins will be produced. These beta-globins will latch onto each other instead of to oxygen, and the hemoglobin molecule will link up with other hemoglobin molecules that have the same issue. This will cause the sickle shape in the cell. This clump of cells will prohibit the passage of oxygen into tissues. Although this can be deadly, the
disease is still present in society because the mutation can be beneficial to helping people survive other diseases. For example, a person who has only one mutation in their genes from only one parent will not be affected by sickle cell anemia and they have a higher chance of surviving malaria. Therefore, they will not be killed by sickle cell anemia or malaria, and they will be able to reproduce and pass on the genetic mutation to their offspring.The only full cure to sickle cell anemia, as of when this article was published, is a bone marrow transplant. This would ultimately give the patient a new circulatory system. However, researchers are looking for new treatment ideas since a bone marrow transplant is really only an option to wealthy people who can find a match. There are some rare patients who have sickle cell anemia, but they do not suffer. This is because they have another genetic mutation that does not stop the production of fetal hemoglobin, which binds very tightly to oxygen. Because of this tight binding, the oxygen is allowed to be transported to the tissues, despite the sickled cells. Researchers want to take this genetic makeup and implement it into patients who are suffering. They can do this by re-awakening the fetal hemoglobin producing gene, which usually stops at about 1 years old. In order to re-awaken this gene, they must disable the gene that stops the fetal hemoglobin from being produced. Scientists have recently found the exact spot on the DNA strand that should it be clipped, the fetal hemoglobin will produce indefinitely. Another treatment being researched is to add genes by creating a virus that delivers an anti-sickling gene. Although these may seem like better alternatives to a bone marrow transplant, they still have some dangers. In either case, the patient will have to undergo chemotherapy, which can be very dangerous. Cancers can develop and all patients will become infertile. This is a tough decision for parents to have to make for their children. However, Global Blood Therapeutics are currently developing a drug that can do the same thing as clipping the DNA would do, but without all the intense side effects.

Relatedness- We learned that the sequence of amino acids determines the shape, which will determine the function of a protein. Genes, which are the specific sequence of bases that code for a specific order of amino acids, are the ones responsible for determining the primary structure of a protein.
The primary structure, which is the sequence of amino acids, will determine how the protein will fold.
The secondary structure of a protein form when amino acids repeat within a certain range of polypeptides. If there is a mess up with the order of amino acids, there will be a mess up of the interactions between the backbones (secondary structure). If this is messed up, then the tertiary structure, which is the interactions of the side chains, will also be messed up. Ultimately, the quaternary structure, which is the overall shape of the protein, will also be messed up. If a protein loses its shape, it will lose its function. A genetic mutation, such as sickle-cell disease, means that there was a mess up in the genetic makeup of the protein by changing the order of amino acids, and the shape could not develop properly, which means it will not have the proper function. The sickle cell disease mutation is caused by a single amino acid substitution in hemoglobin. In a normal hemoglobin, molecules do not associate with one another and they each carry oxygen. In a sickle cell hemoglobin, the molecules interact with each other to crystallize into a fiber and therefore the ability to carry oxygen is greatly reduced. Some things that can cause genetic mutations are temperature, pH levels, and ionization. We also learned that although sickle cell disease is lethal, it is still passed on because people who are heterozygotes benefit in some instances, just like the article mentioned. We also learned that DNA stores information, such as the genetics of what make us ourselves. This is similar to how a barcode stores the information of the object it is responsible for. This relates back to the article because the DNA is what the researchers are planning on clipping in order to stop the specific gene from
working.

Opinion- In my opinion, I think that the best treatment for sickle cell anemia would be for the Global Blood Therapeutics to create the drug. The idea of editing the DNA to turn off the gene that stops the production of fetal hemoglobin is very intelligent and astounding, but the side effects are too dangerous. If there was no requirement for the patient to have to undergo chemotherapy and become infertile, then the treatment would be perfect. Possibly the worst part about the treatment is that the child may be too young to even understand what is happening, and the parents are making all these decisions for them. It is a hard decision for a parent to have to decide if their kid should be infertile for their life. Personally, I would rather be infertile if it means I get to keep my life, but there are some people out who may not feel the same way. This treatment is an improvement from bone marrow transplants. Yes, they are effective, but it isn’t very easy to find a donor because they need to be a perfect match. It also not fair that these options are really only open to rich people. Because the procedure requires a multitude of medical expertise that are only available in first world countries. Even for people living in first world countries, the procedure of a bone marrow transplant might put a financial burden on the family. Like the article says, kids in first world countries who have sickle cell disease are in pain and suffering, but for kids in third world countries, it is a disaster..In first world countries we have doctors and pain killers to provide temporary relief, but in third world countries, they do not have any of that. Although the costs are not predicted yet, I do believe that the drug is the best option. This is because it practically does the same thing as the genetic engineering procedure, but it is a lot less risky. I think if the drug isn’t efficient enough, genetic engineering is your next best try. Although chemotherapy is risky, the child will die without the procedure and I think if there is a chance of survival, you should take it. Another topic that always comes up with that is what if the child dies from the chemotherapy, but could have had a few more years of life if he/she did not undergo any treatment. While this is true, I think it’s worth a shot to try, in hopes that the kid will be in less pain and still have their whole life to live. I’m also quite amazed at scientific and technological advancements, and how advanced the procedures can get.