DiscussionSCD

Discussion

The beginning of the research process was found to be a little hard due to the fact that I found that the majority of the information found in the articles were research projects with the objective of figuring out what was ailing patients or discussing the combination of ailments including sickle cell anemia. I found that there was little information on the testing for the disease or what seemed like contradictory information on what gene was the cause of the disease. It wasn't until I looked for other sources of information that the big picture started come into focus. Different places listed or had information for different variations of the HBB gene. Most at least stated that the HBB gene is the gene that codes for hemoglobin. Some sites listed the mutation that causes the disease is referred to as Hb S, like 23andMe while others like the Genetic Testing Registry referred to the mutation as Hb SS. Some sites, like the Hapmap databases, really only had information on the HBB gene. There was an article that I found that had information on some of the conditions that are caused by and / or accompany sickle cell disease. I found that the information I did find was found in bits and pieces that later came in handy to find additional information. For example, when I first began to find information in the articles, I had a hard time finding information on through any other sources. This was because all I had to go on was the title of the disease. 23andMe gave me a gene to look for. Not all sites had information on Hb S. Some only had information on HBB. Some sites, I needed to look up information by typing in sickle cell anemia, a phenotype of sickle cell disease. I found out that there was an association between specific alleles being more prominent than others. The mutation of the HBB gene has multiple variants such as rs2445284, rs7948471, rs7203560 etc. (Ensembl). This basically maps out the percentage of C and T alleles within different parts of the world. This is key information because the disease is causes by a missense mutation of the alleles C and T. Different percentages of them mean varied chances of the mutation occurring and Africans have the highest amount of T alleles making them more susceptible to the missense mutation. With there being no current cure to the disease, there have been a few different treatments to ease the symptoms. One of these treatments has been for the patient to be prescribed Hydroxyurea. This medication is “An antineoplastic agent that inhibits DNA synthesis through the inhibition of ribonucleoside diphosphate reductase.” (PharmGkb). It stimulates the production of HbF which is fetal hemoglobin, which then reduces the amount of HbS. HbF is the form of hemoglobin found in infants. It is the premature form that precedes those that form into the mutated HbS. This has become the most effective and cost efficient way to treat patients as gene replacement therapy, somatic cell reprogramming, and stem cell transplant. These have not yet become an option as they have not been proven to work and the most prominent amount of subjects are found in developing countries. Blood transfusion and organ transplantation is risky. Using the analysis of the patient’s genome and monitoring the increase of the HbF, the patient’s genome is altered in a way, to suppress the patient’s symptoms (Ngo and Steinburg, 2015).

Back: Results Forward: Broader Impacts Skip to: Abstract Background Methods and Materials Work Cited