There are other mutations that result in hemolytic anemia. Hemolytic anemia translates to a lack of red blood cells (anemia) due to red blood cells breaking (hemolysis). The red blood cells break open because the abnormal γ globin sticks together, forming aggregates that cause damage to the red blood cells. The phenotype of hemolytic anemia is dominant, and hemolytic anemia is inherited in an autosomal manner. A list of these mutations is given below. These mutations change only one amino acid and have varying effects on the function of hemoglobin. Mutation Location Change Context of change 1452 G=C TGGCC TGCGC hemolytic anemia 233 C=A GGCC GGACC hemolytic anemia 202 A=G GCAAC GCGAG NORMAL HEMOGLOBIN 1464 G=T TGGTC TGTTC hemolytic anemia A=G TCCAG TCCTG hemolytic anemia A=G AGAAA AGGAA hemolytic anemia
Added by Michael J.
Step 1
For each mutant, we need to give the changes in the amino acid sequence that would result from the mutation listed: - Mutation at position 1452: G to C change results in a change from tryptophan (TGG) to alanine (CGC). - Mutation at position 233: C to A change Show more…
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Sri K.
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 bloods cells. The mutation causes the red blood cells to become stiff and 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 and lungs, and other conditions. Below are partial sequences for a normal and sickle cell hemoglobin. Discuss how they are different and explain why one seemingly “minor” change could have such drastic consequences. Normal hemoglobin A.A. sequence VALINE-HISTIDINE-LEUCINE-THREONINE-PROLINE-GLUTAMIC ACID-GLUTAMIC ACID Sickle cell hemoglobin A.A. sequence VALINE-HISTIDINE-LEUCINE-THREONINE-PROLINE-VALINE-GLUTAMIC ACID
Many different types of mutations can occur within the body. Sickle cell anemia is a disease that occurs when a mutation in the base pair of the hemoglobin beta gene causes a single replacement of the amino acid glutamic acid by the amino acid valine. As a result of this mutation, the individual's blood cells take on a sickle shape under certain conditions. Which type of mutation causes sickle cell anemia?
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