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4. Genetic information variation relationships
Genetic diseases
Sickle cell anaemia
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Cards (8)
A
mutation
in the gene coding for the
beta
chain of
haemoglobin
causes
sickle cell anaemia
When the
4
polypeptide chains curl up in the
RBC
, they form a specific
3D
shape
If O2 levels fall,
valine
forms bonds with themselves that stick
haemoglobin
molecules together
Haemoglobin
molecules sticking together produces long chains of
clumped haemoglobin
molecules
RBC is pulled out of its
biconcave
shape and produces a
banana
shape
Sickled
blood cell haemoglobin
is less
effective
and has a smaller
surface area
, meaning less
oxygen
is carried
Sickle cell is caused by a
mutation
in the
gene
that codes for the
haemoglobin
proteins
Symptoms of sickle cell anaemia include
fatigue
,
extreme pain
and even
strokes
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