Hey, everybody. What's up? What's up? What's
up? This is Food for Thought. Thoughts if it
were you. And my name is Neogentrics. It's great
to hear from you guys again. It's great to see
everyone that is here. All right. All right.
Now, I'm still recording this for my podcast,
but I'm happy to be here with the rest of you
guys. I'm going to cover something that you asked
me about. I got my notes here. If there's anything
else, I'll probably look it up along the way
as we go. But if I'm not mistaken, your question
over here, your question was, what is sickle
cell disease? Let's see here. If I'm not mistaken,
SCD, it's an inherited blood disorder. It's not
something you can just get. It's not contagious.
That's the good news. But because it's inherited,
it means it's passed down through your families.
So you're either born with it or you're not.
So there's that. It's not something you can catch
or develop later. And the disease, it gets its
name because when you have SCD, your red blood
cells look like sickles, which is a C -shaped,
kind of like a farm tool. Red blood cells contain
a molecule called hemoglobin, which carries oxygen
through the body. In a healthy person, hemoglobin
is smooth, round, and flexible. That allows red
blood cells to glide easily through your bloodstream.
But if you have SCD, the hemoglobin's shape is
abnormal. It forms rods that clump together.
And these cause red blood cells to become rigid
and curved. And the odd -shaped cells block blood
flow. It's... how do I put it? It's dangerous.
It can cause extreme pain, anemia, other symptoms,
you name it. About 100 ,000... People in the
United States have it, roughly. Unfortunately,
most of them are, as they call them, African
Americans. It is known in other countries to
have it as well. That's just the statistic I
have here for America. A problem. So, here's
a question. What causes the disease? Let me see
if I can answer that for you. A problem in the
hemoglobin beta gene found in chromosome 11,
the defect forms abnormal hemoglobin molecules
which cause this. Basically, both your parents
need to pass the abnormal hemoglobin gene onto
you in order for you to actually develop the
disease. So if both your parents carry the defective
gene, you have a 1 in 4 chance of inheriting
the disease and becoming sick with it. And if
a child is born with one defective hemoglobin
beta gene, he may become a carrier of the disease,
if not worse. Carriers usually don't develop
the SCD at all, but they can pass the disease
to future children if their partner also carries
the sickle cell trait. So basically, if you will,
both parents have to have it, basically an alpha
and beta gene, in order for it to become a thing.
With that being said, there are several different
forms of sickle cell disease. The type you and
your child inherit depend on many things, including
the specific type of abnormal hemoglobin you
have. Hemoglobin SS, for one, also known as sickle
cell anemia, is usually the most severe type
of this disorder. Other common forms would be
hemoglobin SC, usually a mild case. Hemoglobin
S -beta. thalassemia. It's a really hard thing
to say. Rarer types, the ones I mentioned before
are the common ones. Three rarer types would
be hemoglobin SD, hemoglobin SE, and hemoglobin
SO. Okay. And here in the United States, newborn
screening programs require that all babies are
tested for this disease shortly after being born
for their safety. It's one of the many things
that they do. They want to make sure that you're,
you know, as they say, healthy. Okay? We'll take
a short break here. And we're back. Now, I know
I mentioned a second ago that you can get it
basically through inheriting it from your parents.
Okay? But let me go ahead and zoom in a little
bit more here into the cause and effect of this
disease real quick. Mainly the abnormal hemoglobin
called hemoglobin S, which causes the sickle
cell disease. Let me zoom in on this a little
bit further. The hemoglobin S gene, how do I
put this? Sickle cell disease is an inherited
disease caused by defects called mutations in
the beta -globin gene. That helps make hemoglobin
known. Normally, the red blood cells take up
oxygen in the lungs and carry it through the
arteries to all the cells in the tissues in the
body. The red blood cells that contain the normal
hemoglobin are shaped like discs, or at least
something close to it, and are flexible so that
they can move easily through large and small
blood vessels to deliver oxygen. Now, sickle
hemoglobin... It's not like normal hemoglobin.
The mutation in the gene causes a problem when
oxygen levels in the blood are lower, which occurs
once the hemoglobin has delivered oxygen to the
cells in the body's tissues. With less oxygen,
the abnormal hemoglobin S can cause rigid, non
-liquid protein strands to form in the red blood
cell. These rigid strands can change the shape
of the cell, causing the sickle red blood cell
that gives the disease its name. And sickle -shaped
cells are not flexible, and they can stick to
vessel walls, causing a blockage that slows or
stops the flow of blood. When this happens, oxygen
is unavailable to reach the nearby tissues. Now,
that lack of oxygen in tissue can cause attacks
of sudden severe pain, cause pain crisis. I mean,
these pain attacks can occur without warning,
and a person who has them often needs to go to
the hospital for effective treatment immediately.
change their shape easily. They tend to burst
apart. Now, normal red blood cells live about
90 to 120 days anyway, but sickle cells last
only 10 to 20 days. The body is always making
new blood cells to replace the old ones. However,
in the sickle cell disease, the body may have
trouble keeping up with how fast the blood cells
are being destroyed. Because of this, the number
of blood cells is usually lower than normal.
This condition in itself is called anemia, okay,
when you don't have enough blood cells in the
first place. It can cause a person to have less
energy. Let me go a little more in depth into
the other half of it. The fact that it's inherited.
Like I said, it is inherited only from one parent.
The normal hemoglobin A is inherited from the
other parent. A person will have a sickle cell
trait. The person with sickle cell trait are
generally healthy. Only rarely do people who
have sickle cell trait have complications similar
to those seen in people who have sickle cell
disease. But people with sickle cell trait are
carriers of a defective hemoglobin S gene, so
they can pass on when they have children. Now,
if the child's parent also has sickle cell trait
or an abnormal hemoglobin gene, such as the leucemia,
hemoglobin C, D, or even E, That child has a
chance of getting the same disease as well Okay
About how to put this each parent has one normal
hemoglobin gene. Let me give an example here
and He would also say each parent has a normal
hemoglobin gene a and what but one of them has
hemoglobin gene s okay, which means that each
child has At least how to put it A 25 % chance
of inheriting two normal hemoglobin A genes.
In this case, the child doesn't have the sickle
cell trait or the disease. Or there's the 50
% chance that one normal hemoglobin A and S gene
will be inherited. This child will have the sickle
cell trait, but he won't have the disease. And
then there's the last 25%. That he'll inherit
both of the S genes. and therefore inherit the
disease. Now, in this scenario, it is important
to keep in mind that each time a couple has a
child, the chances of the child having the disease
remain the same. In other words, even if the
firstborn has the disease, there's still that
same 25 % chance that the child after will also
have the disease. Both boys and girls can inherit
this disease. It is not specific to sex, okay?
They could either end up with the sickle cell
trait, the disease, or the hemoglobin. They each
have a 50 -50 shot of getting any one of the
three. If a person wants to know whether he or
she carries that gene, he needs to order a blood
test from the doctor to find out. Continuing
on with this, let me go into the next one, okay?
That was basically hemoglobin S. The next type
of sickle cell to keep in mind would be sickle
beta 0, the lasemia disease, okay? It's still
a type of anemia in a way, okay? So let me ask
this, what is sickle beta the lasemia 0? Or,
you know... It's basically the same thing in
a nutshell. However, it's not the same, okay?
It's similar. Let's put it this way. Your child's
red blood cells contain normal hemoglobin called
hemoglobin S, like I mentioned before, or the
sickle hemoglobin. In addition, the red blood
cells have a defect called the lasemia, which
results in cells that are smaller in size and
more pale than usual. So, instead of appearing
round or donut -shaped, if you will, your child's
blood cells are somewhat small, pale, and misshapen.
Some may appear sickled or banana -shaped. Now,
there's a thought. Your blood looks like a banana,
but not edible. Because sickle beta -zero thalassemia
is inherited, it's a lifelong disorder. There
is no treatment for it at the moment, or a cure,
although they're currently working on one, to
my knowledge, at the moment. There may be one
yet, but at the moment, I don't know. Your child
will always have a mild anemia or a slightly
low blood count. This may result in occasional
tiredness and weakness. While I'd like to go
into how my child got this, like I mentioned
before with the last one, if one parent has the
sickle trait and the other parent has... Well,
this one's a little different. If one parent
has the sickle trait, but then the other one
has the beta zero trait... There's actually a
one in four chance that their child will be born
with normal hemoglobin. The beta zero trait,
sickle beta zero, the leucemia altogether, or
just the sickle trait. And these chances remain
the same for each pregnancy after the first.
They're basically the same. So, I mean, this
one works out the same way as before. The only
difference is only one of them has to have this
specific trait, whereas the other one would have
the regular trait. Okay? Now, let me mention
something here. There have been problems seen
in children with sickle zero thalassemia. Most
information about the sickle cell anemia, which
applies to this one, like sickle cell anemia
in your child, he still has a high risk, increased
risk of getting infections such as meningitis,
an infection of the brain, pneumonia. septicemia
which is blood poisoning osteomyelitis think
I'm butchering the name on that one it's an infection
of the bone and because children are more susceptible
to infections then in this case than regular
children he or she will put on like they'll be
put on penicillin until age five in order to
help prevent these diseases from occurring and
it's important that you your child take the penicillin
as directed however one thing to keep in mind
with children that are affected by this any fevers
especially of 101 .5 or 38 .5 degrees celsius
should be taken extremely seriously and if that's
the case they have it you need to take them to
the doctor immediately okay On another note,
painful episodes can occur from this beta 0 gene.
The sickle red blood cells in sickle beta 0,
like those in sickle cell anemia, are rigid,
stiff, and may sometimes cause log jams in small
blood vessels in the bones, organs, or even other
parts of your body. Since oxygen, which is carried
by the blood, can't get past the log jams into
the bones and organs, it causes pain. These pain
episodes occur most commonly in the back, stomach,
arms, and legs areas. So yes, it's going to hurt
like hell. It can last for a few hours to make
as much as a week or more. Occasionally, the
pain is accompanied by swelling. Painful episodes
can vary in severity of the pain and the duration.
There are medications to help ease the pain and
make your child more comfortable, but this does
not solve the problem. And often children with
sickle cell beta 0 have a slightly enlarged spleen.
But this usually doesn't cause any problems.
But it is important to inform any physician that
sees your daughter or child that he or she has
this beta 0 gene. You have to let them know.
A child with this gene can have a normal lifestyle
and lifespan. Your child should not be considered
sick. And you should be treating him or her normally
no matter what. Because he or she will need to
be seen regularly by your family doctor. This
is a known fact for regular checkups and vaccinations.
But your child will also need to make several
visits a year to see a hematologist or a blood
specialist just to make sure that everything
is okay. And if you want more information on
that, check out the New England Pediatric Sickle
Cell Consortium. They're doing research on that
specific one right now. Now, let me turn my attention
away from that one for a second and talk about
its twin. It's one similar to it, but it's not
exactly the same. This is sickle cell beta plus
thalassemia. Thalassemia. That word's going to
drive me nuts all day. You're like, well, what's
the difference? What is that? Basically, it's
a mild form of sickle cell disease. I mean, based
off of what I'm saying. been saying so far me
saying something is mild doesn't seem too believable
but i mean it is okay your child's red blood
cells in this form have only a small amount of
the normal hemoglobin called hemoglobin a okay
they also have abnormal hemoglobin called hemoglobin
s which is the sickle cell we mentioned before
okay the red blood cells have another problem
called beta plus thalassemia this causes red
blood cells to be small and pale okay Basically,
it's an inherited condition, same as before.
Hemoglobin S comes from one of the parents. Beta
plus comes from the other parent. It's the same
as the beta zero. Instead of appearing like round
donuts, your child's red blood cells are somewhat
pale and small and a little bit misshapen. As
for the symptoms and problems that occur from
it, well, they're... How do I put this? Symptoms
are somewhat... There's something out of the
ordinary that a parent will notice. Periods of
pain can happen with Sigma Beta Plus. The red
blood cells are rigid and stiff. This is normal
for any sickle cell, for that matter. Sometimes
they clog up the small blood cells in the bones
and other parts of the body. They can cause pain
because not enough oxygen can get to the bones
or other parts of the body. the pain usually
happens in the back stomach and arms areas as
well as the legs um and with this one there will
be there may be swelling uh the pain can last
a few hours or up to a week or more making this
one slightly different from the other one and
the amount of pain varies from person to person
okay sometimes a child uh with Sigma Beta Plus
can have a slightly enlarged spleen. This organ,
as I mentioned earlier, is actually located on
the upper left side of the stomach area. A bigger
spleen usually doesn't cause any problems, but
it will be noticeable. Unlike Sigma Beta Zero,
Sigma Beta Plus There are medicines to help ease
the pain, such as taking medications like Tylenol,
which is acetaminophen or ibuprofen, which would
be Advil. They usually help the pain. Now with
this one, fluids can help your child too. Your
child has a risk of infections, including pneumonia.
The abnormal red blood cells clog up the lungs,
so this increases the risk of infection here.
Your child will need to drink plenty of fluids
to keep the blood vessels open so that these
things can pass through. So there's at least
a way to work with this one, unlike with Beta
Zero. Also, one thing to keep in mind about this
one is that children with Sigma Beta Plus can
have normal lifespans as well. You know, like
the other one, don't consider your child sick.
You need to treat them normally, okay? Your child
will still need to see a doctor regularly for
checkups and vaccinations, much like Beta Zero.
They will have to see a hematologist several
times a year. But other than that, this one's
pretty much the same as the one before with only
slight alterations. The only difference is that
the symptoms for this one are a lot easier to
treat than the other one. Let me move on to the
next one. There are four of these remaining.
okay hemoglobin SC hemoglobin SD hemoglobin SE
and hemoglobin SS we start with hemoglobin SE
it's the still a type of sickle cell disease
like I mentioned before all of these are which
means it affects the shape of the red blood cells
can which contain that protein hemoglobin okay
we already understand that this is what makes
the body function like it needs to and make sure
that the blood cells are the right shape okay
also but the each one has slightly different
effects that make them each different okay and
like that like all the others this one misshapes
your red blood cells and it doesn't allow for
oxygen to flow uh like it's supposed to with
this one person can have a lot of pain or no
pain at all based off of the fact that they can't
get oxygen to certain parts of their body The
severity of the symptoms can vary from person
to person with SC. And the disease is caused
by mutations in the gene, just as before. People
affected by hemoglobin SC disease need to be
especially careful to avoid infection and should
be checked up regularly by doctors from time
to time. The only difference between this one
and the others is that this one may require blood
transfusion. A bone marrow transplant may also
be recommended depending on the severity of the
symptoms. With this, they have newborn screenings
when children are born, especially if the parents
are found to have any of the traits that can
cause this. The thing about this is making a
diagnosis for a genetic or rare disease can often
be challenging for a lot of these doctors. Healthcare
professionals typically look at a person's medical
history, symptoms, physical exams, lab test results
in order to make a diagnosis in this case because
it's so rare. And there's almost no way to determine
if a person won't get it. Like, there's chances
that both parents won't have it, but then that
child that's born just happens to inherit the
trait, and they have no idea where it came from.
So there's that. With that being said, there's
a lot of different algorithms and things flowing
around that allow for them to check this out.
Like, how do I put this? The severity of the
symptoms can vary from person to person. Some
people are minimally affected by it, while others
will have serious complications that require
blood transfusions. And, I mean, it occurs when
the eyes are not getting enough oxygen due to
the shape of the blood cells. So, this is how
this one is triggered specifically. You'll know
if a person has it by the way their eyes react.
More blood vessels form around the eyes to make
up for this challenge as a result of oxygen not
getting there like it's supposed to. And this
is called... How do I say this? Proliferative
Sickle Cell Routine... How do I say it? retinopathy
and that's as close as I'm gonna get to that
without close monitoring by an ophthalmologist
this condition can basically lead to vision loss
that's why this one is watched so fervently it
can cause blindness another possible complication
of hemoglobin SC disease can result with the
bones specifically the bones in the hip Not getting
enough oxygen from the red blood cells. And it's
most common during or after pregnancy in women
affected by this disease. And the treatment for
this complication may require actual surgery
or physical therapy just to even get through
it, okay? There's still a lot of research going
on as to figure out what causes this disease
or how to properly deal with it. So they're watching
these people who get this disease specifically
very fervently. Now I'm gonna skip to the nutty
grit nearly gritty of this one. Okay? The next
one is sickle cell SD. Okay? Much like all the
others it's affected the same way and it is inherited
and there is a one in four chance that every
child in the pregnancy of a person who has either
the sickle cell trait or the other one having
a hemoglobin D trait Will end up with SD, okay?
Now in this specific one How do I put this? People
with the hemoglobin D trait or sickle cell trait
do not have a hemoglobin disease, okay? And they
can't develop the disease later in life, okay?
But they can pass it to their children. This
is understood. However, the SD trait is typically
found in males and females equally and occurs
in all races. But it is more common in people
from Africa, Caribbean, and South American ancestry.
It is less common in the Mediterranean and Middle
Eastern. people but it is there all newborn babies
in utah are tested by default also for hemoglobin
sd disease regardless of their race or ethnic
background the disease is a lifelong condition
and it's not contagious um as for the the the
problems that can be caused with it well in certain
situations hemoglobin may be sickle, like I mentioned
before. It's basically the situation where the
red blood cells become hard, sticky, and clog
up the blood vessels. And, I mean, this, it's
similar to the other iterations when a hevaglomer
S interacts with other S, C, or O hevaglomer
types. I mean, as a result, SD causes, you know,
problems like the sickle cell disease, obviously.
And may have periods of, you know, feeling well
and times of, you know, sudden intense pain out
of nowhere. anywhere in your body no specific
areas have been specified for this one damaging
red blood cells cannot they can't deliver oxygen
obviously in this format you know and again this
one is not very flexible the sickle d shape of
these cell cells can also rupture blood vessels
they have an even shorter lifespan than the normal
red blood cells and the type s which we have
discussed already. And again, it leads to anemia
with low blood cell counts as well. Another thing
to keep in mind is that ruptured blood cells
in turn that are produced from this disease in
turn can cause jaundice as well in a lot of people.
Children with the SD disease sometimes may have
serious health problems. that, if not treated,
could also lead to death in this one's case.
The problems are infection of the blood, like
I mentioned in the last one. However, there's
also a sudden enlargement of the spleen with
a drop in the red blood cell count due to trapping
a large number of blood in the spleen, meaning
that they could actually pass out at some point
and never wake up again. Other serious problems
include sudden pain, swelling in the hands or
feet, fever, increased infection, anemia, obviously.
Chest pain, trouble breathing, pneumonia, stroke,
blood and urine, leg ulcers, gallstones. Yes,
that's a thing. Again, with the vision problems.
Yellowing of the skin. Again, like I mentioned,
that would be jaundice. Organ damage. That can
happen. Kidney failure, which is probably one
of the most painful ones. Painful erections if
you're a guy. Problems during pregnancy. Things
of that nature. Now, the pain management can
also be dealt with with Acetaminophen or Tylenol
or Ibuprofen such as Advil or Motrin. And drinking
plenty and plenty of water or liquids of that
sort can help the pain go away, especially in
children who are especially active. But if the
pain doesn't get better, like I mentioned before
with the last one, make sure you take them to
the ER and have them meet it immediately. Now,
there are some infections of the blood that can
occur in infants and young people. young children
as well so doctors will often prescribe also
for this one penicillin for the child to keep
them immune okay unlike what much others remember
that the child can also live a normal life they
still have to see a hematologist and have regular
checkups for this one as well