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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 up on tests so
let's chat about it it's autosomal
recessive and basically there's a
reduction in the production of pyruvate
because they can't do gluconeogenesis
down to pyruvate they're having 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 kinder
kinase deficiency they have an
intracellular buildup of sodium these
cells then die prematurely and they
resolved in a hemolytic anemia because
these patients are having such a rapid
breakdown of cells they often get gall
stones 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 a 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 okay
this is a primary problem that's
isolated to the red blood cells patients
are going to have a 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 idiopathic
arthritis most of the thought
it's primary we describe these patients
that have has 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'm an IgG with only one F a B
region it better be warm for me to react
if I have five F a B regions like an IgM
would have I can react when it's colder
so when you hear cold agglutinins those
are IgM s and when you hear warmer
glutens those are i g GS 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 okay so you get a Coombs
test and the patient has antibodies
against their red blood cells if we see
that we're gonna treat with prednisone
the IgG mediated autoimmune hemolytic
anemia 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 that 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 hereditary
spherocytosis 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 hereditary ellipta site
kosis this is where the cells form an
ellipsoid type pattern you may have
hereditary pyro piccolo cytosis or South
Asian evallo cytosis or hereditary
stomata cytosis the point is there are
many different kinds all of which were
involving these proteins on the outer
surface of the cell so let's look a
little bit deeper angkeran in patients
with hereditary spherocytosis is the
problem angkeran 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're making so many cells they're
bullet 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'll play each case like
it comes another issue that these
patients have because there's so much
hemoglobin turnover is some may develop
gall stones 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
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you