Let’s take a look at the all
important sickle cell anemia and how
your patient is going to present.
To begin with, let’s get
straight into the detail.
I want you to take a look
at what’s bold in here.
You’ll find glutamic acid which is then
being replaced by valine at position 6.
That will be the most important substitution
that you want to be responsible for.
And in fact, you actually screen for this
on your beta globin and you call this E6V.
And what E6V means,
meaning to say like --
Nowadays, you can actually
genetically screen for a patient
that you would suspect as having
sickle cell anemia by doing
a glutamic acid E6
position for valine.
This gives HbS.
For every HbS that you then acquire
then you end up having either a heterozygous
or a homozygous type of pattern.
Obviously, whenever you have a
homozygous type of disease,
that is far more worse
than a heterozygous.
Are we clear?
It’s an autosomal recessive inheritance
which means that you can only pick up one.
If you pick up one, you
end up having what?
Sickle cell trait.
If you pick up both,
if homozygous then that will
be sickle cell disease.
Make sure that you are quite familiar
with the terminology and the language.
What you’re seeing here at the
bottom, ladies and gentlemen,
is a very important amino acid and
a test in which the first one,
on your left, is showing you
hemoglobin A on your beta globin.
And you notice that the 6 position,
well, there is my glutamic acid.
Do you see the 6
position in red?
I would also know GAG from genetics.
The one on the right,
you find that the glutamic acid
is being replaced by valine.
At what position?
This is GTG.
So the A is being replaced by T,
the glutamic acid replaced
by valine at the 6 position.
What did you form in the process?
On the right, on the beta globin,
take a look,
you formed your hemoglobin S.