Hemoglobinopathy Flashcards
1
Q
alpha cluster
A
alpha like gens
- zetta (embryonic)
- psuedo zetta, alpha
- alpha 2
- alpha 1
2
Q
beta cluster
A
betal like genes
-abssalom
- G gamma
- A gammag
- pseudo beta
- sigma
- beta
3
Q
Globin switching
A
- absalom to gamma
- zetta to alpha
- g to beta
4
Q
Sickle Cell
A
HbSS
GAG—>GTG
B6 Glu —-> Val—->HbS
5
Q
Hemoglobin C disease
A
HbCC
GAG—>AAG
B6 Glu—-> Lys
**same codon as sickle cell, different mutation and phenotype
6
Q
MsII cleave
A
Cleaves CCTNAGG
cannot cut Bs(CCT GTG GAG)
7
Q
Hb Kempsey
A
High Hb-O2 affinity
less O2 to tissues
polycythemia
8
Q
Hb Kansas
A
Low Hb-O2 affinity
lower O2 level in RBC
Cyanosis
9
Q
Alpha-thalassmia
A
- low or zero alpha globin
- excess beta and g-globin, precipitates
- fetal and postnatal defect
- deletion of the alpha globin gene
10
Q
Beta-thalassemia
A
- low or zero beta globin,
- excess alpha globin, precipitate
- postnatal defect
- point mutation in B-globin gene
- Deletion in the LCR or B gene cluster
11
Q
thalassemia can cause
A
hemolysis
microcytosis
hypochromia
12
Q
alpha thalassemia 1
A
mild anemia
aa/_ _ (hetrozygos)
alpha globin level=50%
13
Q
alpha thalassemia 2
A
mild anemia
a_/a_
alpha globin level=50%
14
Q
alpha thal-1/ alpha-thal-2
A
a_/_ _
25% of alpha globin level
severe anemia
15
Q
Simple B-thalassemia
A
mutation affecting one gene
