Answered: Sickle-Cell Anemia is one disease that…

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Sickle-Cell Anemia is one disease that arises from a known point mutation in a protein. This statement is: True False

Nutrition Now

8th Edition

ISBN:9781337415408

Author:Brown

Publisher:Brown

Chapter26: Nutrient–gene Interactions In Health And Disease

Section: Chapter Questions

Problem 3RQ

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Concept explainers

Hematology

Hematology is the branch of biology. Hematology is the medical field that deals with the treatment of blood disorders and cancers, such as hemophilia, leukemia, lymphoma, and sickle-cell anemia. Hematologists and hematopathologists are medical professionals who specialize in illnesses of the blood and its components.

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Sickle-Cell Anemia is one disease that arises from a known point mutation in a protein. This statement is:

True

False

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Sickle-cell disease (often called sickle-cell anemia) is a disease that is caused by a mutation to the gene that is responsible for producing the protein hemoglobin. Remember that hemoglobin is a protein in the red blood cells which is responsible for carrying oxygen throughout the body. When a person possesses the mutated hemoglobin allele, their red blood cells take on an altered shape and this results in a variety of symptoms ranging from general weakening of the body, damage to the organs and even death. The sickle cell allele is recessive to the healthy allele, thus only individuals that are homozygous for the recessive allele will have sickle-cell disease. Individuals that are homozygous for the healthy allele, along with heterozygous, individuals will be physically healthy. Question: Given that this mutated allele will cause disease and death in individuals, what would you predict to occur to the frequency of this allele in the population? Explain.
An addition or deletion mutation that results in all of the amino acids after the mutation being wrong is called
Briefly discuss how sickle cell mutation affects the protein.
Which of the given disorder can be seen in an individual when the mutation includes substitution of a purine by pyrimidine? 1. Chronic myelogenous leukemia 2. Sickle cell anaemia 3. a thalassemia 4. B thalassemia
When an inappropriate amino acid is substituted in place of another, as occurs in certain genetic disorders, the resulting protein is either poorly functional or non-functional. Since proteins contain hundreds if not thousands of amino acids, why should the change of a single amino acid be so critical?
Sickle-cell anemia is a genetic disorder of individuals homozygous for a mutation of hemoglobin that causes their red blood cells to be sickle shaped and stiff under conditions of low pO2. Why is this disease life threatening?
One of your patients, a six-year-old girl who suffers from Sickle cell anemia, an inherited blood disorder in which red blood cells are abnormally shaped and fragile, leading to a short supply of red blood cells. These abnormal cells can also get stuck in small vessels, which prevent blood flow, leading to fatigue, pain, and other severe complications. Patients with sickle cell anemia produce defective beta-globin due to a point mutation that causes the change of a single amino acid residue. This is an example of what type of mutation? nonsense mutation missense mutation frameshift mutation deletion mutation