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CHAPTER 11
Sickle Cell Disease
CHAPTER OBJECTIVES
- Describe the etiology and various forms of sickle cell disease.
- Detail the symptoms associated with sickle cell disease.
- Discuss novel property mutations, heterozygote advantage, and ethnic variation of allelic frequency.
- Review the current treatment recommendations for sickle cell disease.
KEY TERMS
Sickle cell disease results from a point mutation in the hemoglobin beta (HBB) gene that causes a single change in the amino acid sequence and results in substitution of valine for glutamine in the β subunit of hemoglobin. This change confers a new property on hemoglobin but does not alter how this protein binds to oxygen in the blood. Such a change in a gene is known as a novel property mutation. The change in the amino acid sequence alters the solubility of the protein in blood, especially when it is deoxygenated, or the pH of the blood is reduced.
KEY TERMS
Point mutation: the alteration of a single nucleotide to a different nucleotide.
Novel property mutation: a mutation that confers a new property on the protein product.
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