Sickle cell disease Flashcards
1
Q
Sickling pathophysiology
A
Non-conservative missense mutation: Glutamic acid –> Valine
2
Q
Why is SCD a recessive trait?
A
Because some of the b-globulin is functional and can break up the sickling
3
Q
Beta-thal pathophysiology
A
non-sense mutation: AAG-> STOP
4
Q
fetal hemoglobulin
A
gamma hemoglobulin: Higher binding affinity to Oxygen
5
Q
Globulin gene overview
A
