Sickle Cell Anemia Flashcards
On which chromosome does the mutation for sickle cell anemia occur?
Chromosome 11
Sickle cell anemia is a _____ or a _______ disorder?
Blood; genetic
What is the definition of hydrophobic?
“Water-hating”; resists water and has no charge
What is the definition of hydrophilic?
“Water-loving”; binds with water and has a charge
Sickle cell anemia is a _____ mutation.
Point
What is a point mutation?
A substitution mutation that replaces one amino acid with another, and only modifies a specific point in the amino acid chain.
What is a frameshift mutation?
A deletion mutation, that deletes an entire amino acid, modifying the entire amino acid chain that follows after the mutation.
Sickle cell anemia is a mutation that affects the gene that codes for __________.
Hemoglobin
Sickle cell anemia means that the gene that codes for hemoglobin has been mutated, in that the 6th amino acid in the chain, ________ ____, has been replaced with ______.
Glutamic acid; valine
Glutamic acid is a ___________ molecule.
Hydrophilic
Valine is a ___________ molecule.
Hydrophobic
1 hemoglobin molecule consists of four smaller molecules: 2 __________ and 2 ___________.
Beta-globin; alpha-globin
Beta-globin molecules in a sickle cell patient are mutated so that instead of acting as ___________ molecules, they act as ___________ molecules.
Hydrophilic; hydrophobic
Beta-globin molecules in a sickle cell patient bind with each other, instead of with _____.
Water
What are some symptoms of sickle cell anemia?
Shortness of breath, coldness in the hands and feet, dizziness, headaches, jaundice, paler than normal skin, and joint pain and abdominal pain