13. Which process is most responsible for the sickling of cells seen in sickle cell disease? A) aggregation of the oxygenated R form of hemoglobin-S to form insoluble fibers b) aggregation of the deoxygenated T form of hemoglobin-S to form insoluble fibers c) Hemoglobin-S does not contain heme d) Hemoglobin-S contains a mutant form of heme which will not bind oxygen 14. A person with sickle-cell trait is very unlikely to catch which disease? A) malaria b) colon cancer c) avian flu d) whooping cough 15. A person with a genetic defect which results in the synthesis of an insufficient amount of the alpha chain of hemoglobin is said to have which disease? A) alpha thalassemia b) beta thalassemia c) pernicious anemia d) Crohn's disease
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Step 1: In sickle cell disease, the sickling of cells is primarily caused by the aggregation of the deoxygenated T form of hemoglobin-S to form insoluble fibers. Show more…
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Sickle cell anemia is an inherited blood disease that occurs primarily in blacks. In the United States, about 15 of every 10,000 black children have sickle cell anemia. The red blood cells of an affected person are abnormal; the result is severe chronic anemia (inability to carry the required amount of oxygen), which causes headaches, shortness of breath, jaundice, increased risk of pneumococcal pneumonia and gallstones, and other severe problems. Sickle cell anemia occurs in children who inherit an abnormal type of hemoglobin, called hemoglobin S, from both parents. If hemoglobin S is inherited from only one parent, the person is said to have sickle cell trait and is generally free from symptoms. There is a $50 \%$ chance that a person who has sickle cell trait will pass hemoglobin $\mathrm{S}$ to an offspring. a. Obtain the probability that a child of two people who have sickle cell trait will have sickle cell anemia. b. If two people who have sickle cell trait have five children, determine the probability that at least one of the children will have sickle cell anemia. c. If two people who have sickle cell trait have five children, find the probability distribution of the number of those children who will have sickle cell anemia. d. Construct a probability histogram for the probability distribution in part (c). e. If two people who have sickle cell trait have five children, how many can they expect will have sickle cell anemia?
Discrete Random Variables
The Binomial Distribution
Sickle-Cell Anemia is an inherited red blood cell (RBC) disorder in which there aren't enough healthy blood cells to carry oxygen throughout your body. The disease causes aggregation of hemoglobin (Hb), the protein responsible for oxygen transport in RBCs. When Hb aggregates, it causes the formation of long, rigid polymer-esque rods of protein in RBCs. These rods cause the shape of normally round, flexible RBCs to instead sickle, preventing them from moving easily through blood vessels. Nucleotides 1-18 of the WT Hb gene are seen below. Sickle-cell anemia is caused by an A -> T mutation at position 14. 5' - GTCCACACTCCTGAGGAG - 3'. What is the resulting amino acid sequence of the WT Hb protein? What is the resulting amino acid sequence of the mutated Hb protein?
Shaiju T.
Sickle-cell disease is caused by a mutation in one of the codons in the gene for $\beta$ -globin; because of this mutation the sixth amino acid in the $\beta$ -globin polypeptide is a valine instead of a glutamic acid. A less severe disease is caused by a mutation that changes this same codon to one specifying lysine as the sixth amino acid in the $\beta$ -globin polypeptide. What word is used to describe the two mutant forms of this gene? Do you think that an individual carrying these two mutant forms of the $\beta$ -globin gene would suffer from anemia? Explain.
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