Hemoglobinopathies Flashcards
1
Q
point mutation in sickle cell TRAIT
A
Hb AS
B1: normal
B2: glutamate –> valine
2
Q
point mutation in sickle cell ANEMIA
A
Hb SS
B1: G –> V
B2: G –> V
3
Q
point mutation in sickle cell DISEASE
A
Hb SC
B1: G –> V
B2: G –> L
4
Q
Hb A
A
normal
5
Q
HbA > HbA2, HbF
A
beta thal trait
6
Q
HbF, HbA2»_space;, very little HbA
A
beta thal major
7
Q
HbAS
A
sickle cell trait
8
Q
HbSS
A
sickle cell anemia
9
Q
HbA2, S
A
Hb sickle + beta thal
10
Q
HbSC
A
sickle cell disease
11
Q
how do you differentiate between alpha and beta thal traits?
A
alpha thal has normal hemoglobin electrophoresis, whereas beta thal has ELEVATED hemoglobin A2 and fetal hemoglobin
