Using “Sickle Cell Anemia” as the topic, please follow the instructions here:
Functional Genomics Research Assignments:
Genetics and the Pathophysiological Basis of Disease
Welcome to the Functional Genomics Research Assignments. In this activity, you will explore the Physiology and Functional Genomics as it relates to human disease.
Objectives:
1) Learn to use literature searches.
2) Understand the complexity and physiological basis of diseases of genetic origin.
3) Explore and understand accepted treatment options.
Procedure:
For each disease, you will write a short paper (no more than 1000 words total) addressing each of the following:
1) What is the genetic basis of the disease?
2) What is the molecular basis of the disease? (what is abnormal at the cellular, biochemical, or molecular level?)
3) What are the physiologic implications of the disease? (what is abnormal about the physiology of people with this disease?)
4) What are the treatment options?
Each of these questions can be addressed sufficiently in one paragraph (250 words or less for each question).
Requirements
Resources
An important objective of this exercise is to find reliable information that is pertinent to your needs. You could start with standard textbooks, such as Harrison’s Textbook of Medicine, or Ganong’s Review of Medical Physiology. A disadvantage of relying solely on this approach, however, is that textbooks are rarely current. After gathering general information, you might wish to consult reliable information on the world-wide web. There are several sites which exist for the purpose of teaching. For example, see
http://www.ncbi.nlm.nih.gov/disease
Another great place to start, however, is the national repository of all peer-reviewed medical literature (since 1966), PubMed. This site is accessed through the National Library of Medicine, and can be found at the following site:
http://www.ncbi.nlm.nih.gov/pubmed
In PubMed, you will be able to find both primary literature and reviews which will be useful.
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Sickle Cell Anemia
Sickle cell anemia is a genetic disorder that affects the red blood cells. Red blood cells are responsible for carrying oxygen throughout the body. In people with sickle cell anemia, the red blood cells are shaped like a crescent moon, or a sickle. This abnormal shape makes the red blood cells more likely to break down, which can lead to a number of health problems.
Genetic Basis
Sickle cell anemia is caused by a mutation in the HBB gene. The HBB gene is responsible for coding for the beta-globin chain, which is one of the two chains that make up hemoglobin. The mutation in the HBB gene causes the beta-globin chain to be produced in an abnormal form. This abnormal form of the beta-globin chain makes the red blood cells more likely to become sickle-shaped.
Molecular Basis
The molecular basis of sickle cell anemia is the abnormal production of hemoglobin. Hemoglobin is a protein that is found in red blood cells. It is responsible for carrying oxygen throughout the body. In people with sickle cell anemia, the hemoglobin is abnormal. The abnormal hemoglobin is called hemoglobin S. Hemoglobin S is more likely to precipitate, or clump together, than normal hemoglobin. This clumping of hemoglobin can lead to the formation of sickle-shaped red blood cells.
Physiologic Implications
The physiologic implications of sickle cell anemia are a number of health problems that can occur as a result of the abnormal production of hemoglobin. These health problems include:
Anemia: Anemia is a condition in which the body does not have enough healthy red blood cells. This can lead to fatigue, shortness of breath, and pale skin.
Painful crises: Painful crises are episodes of severe pain that can occur in people with sickle cell anemia. These crises are often caused by blockages in blood vessels.
Stroke: Stroke is a sudden loss of blood flow to the brain. Stroke can be a serious complication of sickle cell anemia.
Infection: People with sickle cell anemia are more likely to get infections. This is because the abnormal hemoglobin makes the red blood cells more fragile. When the red blood cells break down, they release iron. Iron can promote the growth of bacteria.
Treatment Options
There is no cure for sickle cell anemia. However, there are a number of treatments that can help to manage the symptoms of the disease. These treatments include:
Pain medication: Pain medication can be used to relieve pain during painful crises.
Blood transfusions: Blood transfusions can be used to increase the number of healthy red blood cells.
Hydration: Hydration is important for people with sickle cell anemia. Staying hydrated can help to prevent blood clots and reduce the risk of stroke.
Folic acid supplements: Folic acid supplements can help to prevent anemia.
Antibiotics: Antibiotics can be used to treat infections.
Sickle cell anemia is a serious disease, but it can be managed with proper treatment. With proper care, people with sickle cell anemia can live long and healthy lives.
