Let’s switch goals now towards
another cause of anemia
that you should know about and we often
think about as a metabolic condition.
This is pyruvate kinase deficiency.
It is extremely rare, but it sometimes
shows upon test, so let’s chat about it.
It’s autosomal recessive
and basically there is a reduction
in the production of pyruvate.
Because they can’t do
glycolysis down to pyruvate,
they are having a hard time putting
pyruvate into the citric acid cycle.
And remember, the citric acid cycle
is responsible for making ATP.
Now if you have a deficiency of ATP,
it’s the cell without a mitochondria.
The cell that’s relying on
its own endogenous stores,
that’s going to be suffering first
and that cell is the red blood cell.
So in patients with
pyruvate kinase deficiency,
they have an intracellular
buildup of sodium.
These cells then die prematurely and
they result in hemolytic anemia.
Because these patients are having
such a rapid breakdown of cells,
they often get gallstones where the
byproduct of bilirubin is stored up
and they can turn into stones.
The patients also may develop
at birth kernicterus.
For that rapid breakdown, you can
see that they get so jaundiced
and they get an unconjugated hyperbilirubinemia
that can result in kernicterus.
Furthermore, because they
require multiple transfusions,
they are at risk for iron overload,
so you have to keep an eye on that.
So let’s switch gears now to an acquired
anemia such as autoimmune hemolytic anemia.
This is a primary problem that’s
isolated to the red blood cells.
Patients are going to have an antibody
attack on their red blood cells.
Alternatively, this could
be a secondary problem
from a generalized autoimmune
condition like lupus
or Crohn’s or juvenile
Most of the time, it's primary.
We describe these patients as
having warm or cold agglutinins.
The way I like to think about this is
we know that when things are warm,
it’s easier for them to react.
So if I have an IgG with
only one FAB region,
it better be warm
for me to react.
If I have 5 FAB regions,
like an IgM would have,
I can react when it’s colder.
So when you hear cold agglutinins,
those are IgMs and when you hear
warm agglutinins, those are IgGs.
It doesn’t really matter so much we’re
going to manage this fairly similarly
but that’s the distinction.
How do we make this diagnosis?
Well, we’ve talked about it already really,
it’s that Coombs test we talked about.
So you get a Coombs test
and the patient has
their red blood cells.
If we see that, we’re going
to treat with prednisone.
The IgG mediated autoimmune
will respond a little bit better
to steroids than the IgM will.
If patients get very bad off,
we will need to transfuse and
care must be taken to transfuse
because we have to transfuse them blood,
for which they are not
attacking by antibodies
and we’ll use the indirect
Coombs to figure that out.
In worst case scenarios, if we can’t find
a type of blood that works for them,
we may need to do plasmapheresis to
try and take out those antibodies.
Overall, the mortality of this
condition is pretty high.
It’s around 10%, but many patients will
recover without too many problems.
Let’s move on to the
This is a disorder that is
in a family of disorders
where the problem is the
proteins that anchor
the red cell membrane
into its classic form.
So there are many different
types of these disorders.
One is hereditary spherocytosis,
which is the most common type and
you can see it on this slide.
These cells don’t have
their classic pattern.
They are small spheres.
You can also get
This is where the cells form
an elliptoid-type pattern.
You may have hereditary pyropoikilocytosis
or South Asian ovalocytosis
or hereditary stomatocytosis.
The point is there are
many different kinds,
all of which were involved in these
proteins on the outer surface of the cell.
So let’s look a little bit deeper.
Ankyrin in patients with hereditary
spherocytosis is the problem.
Ankyrin normally holds the red blood
cell into that shape that we expect.
In patients with hereditary spherocytosis,
the abnormal cells are cleared
prematurely, mostly in the spleen.
So these patients will have an anemia.
Here’s an example of that disease
and you can see that the cells
are not accommodating a normal
picture that we would see.
You can make this diagnosis
pretty much on a blood smear.
Many patients with hereditary
spherocytosis are asymptomatic
and really require no therapy other
than perhaps folate supplementation,
because remember since they
are making so many cells,
they are burning
through the problem.
More severe patients are
treated with splenectomy.
What this does is it
reduces that clearance,
so that they’re less likely
to have severe anemia.
They may get chronic transfusions
and that’s actually why we’re not
necessarily supplementing with iron
because they may end up iron
overloaded from those transfusions.
We will play each case like it comes.
Another issue that these patients have,
because there are so much
is some may develop gallstones and
eventually the need for cholecystectomy.
This is true of all of our rapid
turnover red blood cell anemias.
So that’s a summary as it were of most of
the types of anemia that we see in children
and how we break them down and
how we make that diagnosis.
Thanks for your time.