Relating Back to Your Mystery Sequence (6 points total) This week in lab you use
ID: 135997 • Letter: R
Question
Relating Back to Your Mystery Sequence (6 points total)
This week in lab you used BLAST and other resources to research a mystery gene sequence and identify a genetic disease commonly associated with that sequence. The second part of this exercise further expands your research on the disease itself. Cite all sources used to answer these questions. If you use peer-reviewed sources to answer these questions, provide full reference citations using the format learned in the Library lab.
1) What should you warn your patient of (short life expectancy, symptoms, if the symptoms get worse with time, things to avoid, etc.)? Be as thorough as you can, your patient is depending on it! (1 point)
2) What kind of information could you provide to console your patient? Are there treatment options or helpful lifestyle changes? Is there any kind of cure? Is there any cutting edge research on the disease (published within the last year or two)? Again, be as thorough as you can! (1 point)
Explanation / Answer
Ans 1) In this case, we can assume that the genetic disease is most likely related to the sickle cell anemia. The sickle cell anemia is an inherited form of anemia where the red blood cells do not mature enough and are not able to carry enough oxygen throughout the body. In such condition, the RBC becomes sticky and becomes of sickle shape. They tend to block the blood vessels which can block the flow of blood and movement of oxygen to the body. There is hardly any cure for sickle cell anemia and the life expectancy for such patients is short.
Sickle cell anemia is caused due to mutation in a gene that is involved in production of the iron rich compound heme which is responsible for giving red color to the blood. The hemoglobin helps in carrying oxygen from lungs to all parts of the life and during sickle cell anemia, there is abnormal rise in RBC that are not fully matured and it clutters the blood vessel. The patients with sickle cell anemia have short life expectancy with an average life expectancy of 42 years fir males and 48 years for females.
Some of the symptoms of sickle cell anemia are severe pain in the abdomen, chest, bones or the joints, swelling of hands, abdominal swelling, fever, pale skin, yellow tint to skin and weakness, extreme fatigue, signs o stroke etc.
The first thing to immediately stop is drinking and smoking. Do not exercise too much that it leads to fatigue. Do not stay cold and make sure you keep your body warm, avoid swimming in cold water. Make sure you don’t travel much and do not stress.
Ans 2) In order to console the patient motivate the patient to lead a healthy lifestyle which can to a point reduce the negative impact of sickle cell anemia. One of the best treatment for sickle cell anemia is bone marrow transplant which is also known as stem cell transplant but finding a donor for the same is not easy and mostly restricted to younger patient. There are antibiotics and increase intake of folic acid which can take care of it but not cure it. It is important to include little bit of exercise and lead a healthy life. It is important to sleep well and stay hydrated.
According to a new research it is found that Sanguinate helps in reducing the cases of sickle cell anemia. It is a dual gas transfer agent which has shown to revert the sickled RBC to normal RBC. It is found to be effective in treating the sickle cell anemia.