15 Questions
Which amino acid substitution is responsible for the HbC variant?
Glutamate to lysine at position 6
What is the main effect of the HbC variant on red blood cells?
It does not cause RBCs to sickle
Which region is the HbC variant most common in?
West Africa
Which type of thalassemia is characterized by a reduction or absence of alpha-chain synthesis?
Alpha thalassemia
How many alpha-globin genes are present in a cell?
4 (2 on each chromosome 16)
What is the clinical presentation of alpha thalassemia minor?
Asymptomatic
What are the symptoms of HbH disease?
Hemolytic and microcytic anemia, splenomegaly
Which type of thalassemia is characterized by severe anemia in the fetus and is incompatible with life?
Alpha-thalassemia
How many beta-thalassemia genes are present in each cell?
2
What is the main difference between beta+ and beta0 mutations in beta-thalassemia?
Beta+ mutations result in reduced beta-globin production, while beta0 mutations result in a complete absence of beta-globin production.
Why are the symptoms of beta-thalassemia more severe than those of alpha-thalassemia?
Beta-chains form hemichromes at a faster rate, making beta-thalassemia more severe.
What are the clinical symptoms of beta-thalassemia major (Cooley's anemia)?
All of the above
What is hereditary persistence of fetal hemoglobin (HPFH)?
A benign condition characterized by significant production of HbF that persists into adulthood.
What is the treatment for severe thalassemia?
Blood transfusions and chelation therapy
What is ZYNTELGO?
A one-time gene therapy for beta-thalassemia that uses the patient's own blood stem cells to add functional copies of beta-globin genes.
Genetics Lecture 11
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