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| * genetic Q |
| | #572217 |
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Severe anaemia at birth is a feature of what?
a) Alpha-thalassaemia
b) Beta-thalassaemia
c) Hereditary persistence of fetal haemoglobin
d) Sickle cell disease
Question 3
The mutation in sickle-cell disease consists of:
a) a deletion.
b) a duplication.
c) an insertion.
d) a point mutation.
Question 4
The common mutation in α-thalassaemia consists of:
a) a deletion.
b) a duplication.
c) an insertion.
d) a point mutation.
Question 5
The mutational mechanism in δβ-thalassaemia consists of:
a) a deletion.
b) a duplication.
c) an insertion.
d) a point mutation.
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| * Re:genetic Q |
| #2346393 |
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Severe anemia at birth is Alfa-Thalassemia with HbH increased,MCV decreased and Normal Iron
If anemia ?6 mo=Bthallasemia with HbF increased
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| * Re:genetic Q |
| #2346397 |
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The sickle cell disease is a in the group of substititions single point mutation ,more specific =MISSENSE –new codon specify different amino acid |
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| * Re:genetic Q |
| #2346404 |
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Alfa thalassemia is LARGE SEGMENT DELETION in which unequal crossover has deleted one or more alfa globin genes from chromosome 16th.
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| * Re:genetic Q |
| #2346744 |
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Severe anaemia at birth is a feature of what?
Your Answer:
a) Alpha-thalassaemia
Feedback:
Beta chain synthesis does not begin until after birth so that disorders involving primary defects in β-globin chain synthesis do not present until later in infancy.
Page reference: 154-155
Question 3
The mutation in sickle-cell disease consists of:
Your Answer:
d) a point mutation.
Feedback:
The sickle-cell mutation consists of an A to T transversion resulting in substitution of valine for glutamic acid.
Page reference: 157
Question 4
The common mutation in α-thalassaemia consists of:
Your Answer:
a) a deletion.
Feedback:
The most common mutational mechanism is deletion of one or both contiguous α-globin genes.
Page reference: 159
Question 5
The mutational mechanism in δβ-thalassaemia consists of:
Your Answer:
a) a deletion.
Feedback:
This is caused by deletion of the contiguous δ- and β-globin genes.
Page reference: 162
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| * Re:genetic Q |
| #2347057 |
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i thought in 5 B thalassemia has a problem with alternative splicing so insertion would be making sense with this defect! |
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