Sickle Cell Disease

Full Answer Section

    The type of mutation that causes sickle cell disease is a point mutation. This means that a single base pair in the DNA sequence is changed. In the case of sickle cell disease, the mutation changes the amino acid glutamic acid to valine at position 6 of the beta-globin chain. This change makes the hemoglobin molecules more likely to clump together. The symptoms of sickle cell disease can vary depending on the severity of the disease. People with sickle cell anemia often have chronic anemia, which can lead to fatigue, shortness of breath, and pale skin. They may also experience pain crises, which are episodes of severe pain. Pain crises can be caused by a number of things, such as infection, dehydration, or strenuous exercise. There are a number of treatments available for sickle cell disease. These include:

• Blood transfusions: Blood transfusions can help to increase the number of healthy red blood cells and relieve anemia.
• Hydroxyurea: Hydroxyurea is a medication that helps to reduce the number of sickle cells and prevent pain crises.
• Bone marrow transplant: Bone marrow transplant is a procedure that replaces the patient's bone marrow with healthy bone marrow from a donor. This is a risky procedure, but it can be a cure for sickle cell disease.

There are a few aspects of sickle cell disease that could be of benefit to a person in some way. For example, people with sickle cell trait are resistant to malaria, a serious disease caused by a parasite. This is because the sickle-shaped red blood cells are less likely to be infected by the parasite. It is not possible to look at a person and see the phenotype of sickle cell disease. The symptoms of sickle cell disease are not always visible, and there is no physical characteristic that is unique to sickle cell disease.

Sample Solution

   

Sickle cell disease is a genetic disorder that affects the blood. It is caused by a mutation in the gene for hemoglobin, the protein that carries oxygen in the blood. The mutation changes one of the amino acids in hemoglobin, which makes the hemoglobin molecules more likely to clump together. This can lead to a number of problems, including:

• Sickle cell anemia: This is the most common form of sickle cell disease. It is characterized by anemia, which is a low number of red blood cells. People with sickle cell anemia often have fatigue, shortness of breath, and pale skin. They may also experience pain crises, which are episodes of severe pain.
• Sickle cell trait: This is a milder form of sickle cell disease. People with sickle cell trait do not usually have any symptoms, but they can still pass the mutation on to their children.