So what is Diamond Blackfan syndrome?
Well, Diamond Blackfan syndrome
was discovered way back in 1938.
Interesting in terms of history,
but the bottomline is this.
There is a failure of the bone
marrow to function properly.
That is the most important point.
And what happens is the fact that either
the bone marrow failure can be so bad
in which it may result as aplastic anemia,
thus it would be normocytic non-hemolytic.
Or the RBCs are not properly what?
Being synthesized and so therefore, you might
have very, very, very primitive cells.
So your erythroid progenitor cells are
then going to form megaloblasts, okay?
Fact, so be careful.
Diamond Blackfan, bone
marrow issue for sure
either you’re going to form megaloblast
or the bone marrow will be shut down.
Now, in terms of what is happening
here with the symptoms of your patient
with Diamond Blackfan is what
we'll walk through here.
It’s congenital pure red
blood cell aplasia.
That's the point.
So your trilineage, no.
You won’t have
So you won’t have issues
with your neutrophils.
You do not have your issues
with your platelets.
It’s more about your RBCs
that you have problems with.
It’s congenital hypoplastic anemia.
Meaning to say the bone marrow
is not working properly.
And there is a subset of
Diamond Blackfan syndrome.
And it's a syndrome, I’m just
going to put it here for you,
just so that you have a
little bit more information.
Your focus, however,
should be on DBA.
Let’s move on.
I have given just the right amount of
information so that when you get a question,
you can then address it confidently
and not feel confused.
Main thing is bone marrow issue,
RBCs almost exclusively
and it will be either aplastic or it will
be under the category of megaloblastic.
Let's move on.