Explain how the mutation would cause the clinical manifestations of sickle cell anemia?
Explain how the mutation would cause the clinical manifestations of sickle cell anemia?
Homework Answers
Sickle cell anemia is a form of anemia which is inherited genetically, the condition is characterized by the abnormality of the red blood cells to carry oxygen. The condition causes the red blood cells to be sickle shaped. This is caused due to the mutation in the gene known as hemoglobin beta (HBB) present on chromosome 11. The mutation results in the production of abnormal hemoglobin in the RBC. This mutation causes a change in the amino acid sequence of hemoglobin from glutamic acid to valine. This produces HbS instead of HbA. This results in the sickle shape of the RBC molecule instead of doughnut shape. This causes blockages in the blood vessels as the sickle shaped RBC gets stuck.
The clinical manifestations that arise because of this are:
- There is a chronic pain in the abdomen, chest and the joints.
- The most common among the manifestations is a vaso-occlusive crisis. this is caused when there is an obstruction in the microcirculation of the blood and there is an ischemic injury in the organ to which the blood is being supplied. This causes pain and sometimes causes hospitalization.
- There can be a pain in the bone which arises due to the bone marrow infraction.
- Splenic sequestration can occur in the child during early years and has the highest frequency. The complication is characterized by enlargement of the spleen and has a high count of reticulocyte.
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Explain how the mutation would cause the clinical manifestations
of sickle cell anemia?
Sickle Cell Anemia Sickle cell anemia is the result of a type of mutation in the...
Sickle Cell Anemia Sickle cell anemia is the result of a type of mutation in the gene that codes for part of the hemoglobin molecule. Recall that hemoglobin carries oxygen in your red blood cells. The mutation causes these red blood cells to become stiff & sickle-shaped when they release their oxygen. The sickled cells tend to get stuck in blood vessels, causing pain and increased risk of stroke, blindness, damage to the heart & lungs, and other conditions. Analyze...
Sickle-cell anemia is caused by a single point mutation in the hemoglobin of human red blood...
Sickle-cell anemia is caused by a single point mutation in the hemoglobin of human red blood cells. It is a recessive gene. People who have sickle cell anemia are homozygous recessive and suffer terribly from this disorder. Now I have stated in lecture that mutations are neither good nor bad. Rather it depends on how the mutation effects the survival of the species. If the mutation harms the survival of the species it is bad, if it helps the survival...
A mutation in one of the hemoglobin genes causes sickle cell anemia. The sickle cell allele,...
A mutation in one of the hemoglobin genes causes sickle cell anemia. The sickle cell allele, S, severely reduces fitness in people who are homozygotes, SS. In contrast, people with at least one normal hemoglobin allele, A, do not suffer the effects of sickle cell anemia, even if the individual is a heterozygote, AS. Interestingly, though, in areas with a high rate of malaria, heterozygotes that carry the sickle cell allele have a higher fitness than do individuals that are...
Sickle-cell anemia is caused by a single point mutation in the hemoglobin of human red blood cells. It is a recessive gene. People who have sickle cell anemia are homozygous recessive and suffer terribly from this disorde
Sickle-cell anemia is caused by a single point mutation in the hemoglobin of human red blood cells. It is a recessive gene. People who have sickle cell anemia are homozygous recessive and suffer terribly from this disorder. Now I have stated in lecture that mutations are neither good nor bad. Rather it depends on how the mutation effects the survival of the species. If the mutation harms the survival of the species it is bad, if it helps the survival...
The sickle cell anemia allele is very common for a harmful mutation. Why? (in-depth answer pls)
The sickle cell anemia allele is very common for a harmful mutation. Why? (in-depth answer pls)
1. Explain how some patients who are homozygous for the sickle-cell allele do not develop sickle-cell...
1. Explain how some patients who are homozygous for the sickle-cell allele do not develop sickle-cell crisis or other symptoms of the disease. Because of a mutation to a regulatory gene, a variant form of the beta subunit is expressed that does not cause sickling of hemoglobin protein. Because of a defective regulatory gene, fetal hemoglobin is expressed in adulthood which compensates for defective adult hemoglobin. Because of an additional mutation to the gene for the beta subunit of hemoglobin,...
Sickle-cell Anemia Study Sickle-cell anemia or Sickle-cell disease, is a hereditary disorder. characterized by aryabnormality in...
Sickle-cell Anemia Study Sickle-cell anemia or Sickle-cell disease, is a hereditary disorder. characterized by aryabnormality in the oxygen-carrying hemoglobin molecule in erythrocytes. Sickle-cell conditions have an autosomal recessive pattern of inheritance from parents. The sickle cell defect is a mutation of a single nucleotide of the hemoglobin B gene, which results in glutamic acid being substituted by a different amino acid at position 6. Hemoglobin with this mutation is referred to as Hbs, as opposed to the normal hemoglobin HbA....
Explain how the allele that causes the fatal condition of sickle-cell anemia has been preserved in...
Explain how the allele that causes the fatal condition of sickle-cell anemia has been preserved in certain populations that are exposed to malaria. Why is sickle-cell anemia relatively frequent today even among populations who live in geographic regions where malaria is under control?
Sickle cell anemia is a condition in which red blood cells exhibit a characteristic "sickle" shape....
Sickle cell anemia is a condition in which red blood cells exhibit a characteristic "sickle" shape. This arises from a mutation or change in one of the amino acids found in hemoglobin. A single amino acid mutation would directly affect a protein's _______ structure. A. tertiary B. primary C. quaternary D. secondary
6. If you need to design a drug for (a) treating sickle cell anemia disease, what...
6. If you need to design a drug for (a) treating sickle cell anemia disease, what would your strategy be? Why? (b) What is the cause of sickle cell anemia?
Sickle Cell Anemia Sickle cell anemia is the result of a type of mutation in the gene that codes for part of the hemoglobin molecule. Recall that hemoglobin carries oxygen in your red blood cells. The mutation causes these red blood cells to become stiff & sickle-shaped when they release their oxygen. The sickled cells tend to get stuck in blood vessels, causing pain and increased risk of stroke, blindness, damage to the heart & lungs, and other conditions. Analyze...
A mutation in one of the hemoglobin genes causes sickle cell anemia. The sickle cell allele, S, severely reduces fitness in people who are homozygotes, SS. In contrast, people with at least one normal hemoglobin allele, A, do not suffer the effects of sickle cell anemia, even if the individual is a heterozygote, AS. Interestingly, though, in areas with a high rate of malaria, heterozygotes that carry the sickle cell allele have a higher fitness than do individuals that are...
Sickle-cell Anemia Study Sickle-cell anemia or Sickle-cell disease, is a hereditary disorder. characterized by aryabnormality in the oxygen-carrying hemoglobin molecule in erythrocytes. Sickle-cell conditions have an autosomal recessive pattern of inheritance from parents. The sickle cell defect is a mutation of a single nucleotide of the hemoglobin B gene, which results in glutamic acid being substituted by a different amino acid at position 6. Hemoglobin with this mutation is referred to as Hbs, as opposed to the normal hemoglobin HbA....
6. If you need to design a drug for (a) treating sickle cell anemia disease, what would your strategy be? Why? (b) What is the cause of sickle cell anemia?
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