Chapter 6: Problem 11

What is the cause of sickle cell anemia, and why are heterozygous carriers of sickle cell anemia more resistant to malaria than individuals who do not carry the mutation?

Short Answer

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Answer: Sickle cell anemia is caused by a mutation in the HBB gene, leading to the production of an abnormal form of hemoglobin called hemoglobin S (HbS), which causes red blood cells to become sickle-shaped and rigid. Heterozygous carriers of sickle cell anemia have a higher resistance to malaria because the presence of HbS in their red blood cells hinders the malaria parasite's ability to grow and multiply within the cells.

Step by step solution

Introduction to sickle cell anemia

Sickle cell anemia is a genetic disorder that affects the red blood cells, causing them to become misshaped and inflexible. This leads to a decreased ability to carry oxygen and makes it difficult for the blood cells to move through blood vessels, leading to various health problems.

Explain the cause of sickle cell anemia

Sickle cell anemia is caused by a mutation in the HBB gene, which is responsible for the production of hemoglobin, the protein that carries oxygen in the red blood cells. A change in a single base in the DNA sequence of this gene, causing the amino acid glutamic acid to be replaced by valine, leads to the production of an abnormal form of hemoglobin called hemoglobin S (HbS). HbS causes red blood cells to become sickle-shaped and rigid, which leads to the various symptoms and complications of the disease.

Introduction to malaria

Malaria is a serious and potentially fatal infectious disease caused by parasites of the Plasmodium species, which are transmitted to humans through the bite of infected mosquitoes. The parasites enter the red blood cells and multiply within them, eventually rupturing the cells to release more parasites that continue the cycle of infection.

Explain the benefits of being a heterozygous carrier of sickle cell anemia in relation to malaria resistance

Individuals who are heterozygous for the sickle cell anemia mutation (carrying one normal HBB gene and one mutated HBB gene) have a higher resistance to malaria than those without the mutation. This is because the presence of HbS in their red blood cells provides them with some protection against the malaria parasite. When the malaria parasite tries to infect a red blood cell containing HbS, the cell becomes sickle-shaped, which hinders the parasite's ability to grow and multiply within the cell. As a result, heterozygous carriers of sickle cell anemia are less likely to develop severe malaria and more likely to survive an infection with the malaria parasite.

Conclusion

In summary, sickle cell anemia is caused by a mutation in the HBB gene leading to the production of an abnormal form of hemoglobin called hemoglobin S. This results in sickle-shaped and rigid red blood cells. Heterozygous carriers of sickle cell anemia, who have one normal HBB gene and one mutated HBB gene, possess a higher resistance to malaria because the presence of HbS in their red blood cells provides some protection against the malaria parasite, making it harder for the parasites to grow and multiply within the cells.

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What is the cause of sickle cell anemia, and why are heterozygous carriers of sickle cell anemia more resistant to malaria than individuals who do not carry the mutation?

Short Answer

Step by step solution

Introduction to sickle cell anemia

Explain the cause of sickle cell anemia

Introduction to malaria

Explain the benefits of being a heterozygous carrier of sickle cell anemia in relation to malaria resistance

Conclusion

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