133. Sickle Cell Disease: Shifting Paradigms in Optimal Management for NPs (CE)

Episode Transcript
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(00:12):
From the American Association of Nurse
Practitioners, I am nursepractitioner, nurse midwife,
and AANP educationspecialist Cammie Hauser.
I would like to welcome youto this edition of NP Pulse,
the voice of the nurse practitioner.

(00:32):
NP Pulse is AANP’s
official podcast,
bringing unique nurse practitioner voices
and expertise on issues that matter to NPS
and to our patients.
As always, be sure to subscribeto this podcast, share
with your colleagues and check back often
for new conversationswith nurse practitioners

(00:53):
and healthcare leadersfrom across the nation.
Sickle cell disease is a condition
of immense clinicalgravity causing acute pain,
joint damage, anemia
and risk of infection, stroke,delayed growth in children
and adolescents, as well
as long-term organ dysfunction in adults.

(01:13):
However, recent evolutionsin treatment options offer
promising novel
and emerging therapeutics poised
to truly revolutionizesickle cell disease care.
In this edition of NP Pulse,NP specialist Sheryl Mitchell
and Artangela Henry will help NPs to

(01:34):
understand the pathophysiologic mechanism
of sickle cell disease, adoptguideline driven strategies
to mitigate risk,
recognize ways in whichsocial determinants
of health impact barriers to optimal care,
and identify ways in which new data
and evidence-based approaches
to comprehensive sickle celldisease care may swiftly be

(01:56):
integrated into individualclinical practice.
Learning objectives for this program are
to describe the epidemiological patterns,
pathophysiologic principles,
and robust patient burdenof sickle cell disease.
Examine current bestpractices for SCD diagnoses,
highlighting the fundamental importance
of early disease detection,characterization,

(02:19):
and linkage to treatment.
Evaluate the established
and evolving therapeutic landscape for SCD
with a focus on recentregulatory approvals in emerging
trial data for novel agents.
Design individualizedevidence-driven treatment plans
for patients with SCD thatmitigate disease complications

(02:40):
and improve quality of life.
And finally, to identifyresidual unmet needs
in SCD treatment.
Welcome everyone. I'mDr. Sheryl Mitchell.
I am a professor at the Universityof South Carolina College
of Nursing and I havepracticed in urgent care,
the emergency department, internal medicine

(03:01):
and with the special needs population.
But today we are going todiscuss sickle cell disease
and I'm going to turnthis over to Dr. Henry.
Hello everyone. I'm Dr. ArtangelaHenry, nurse practitioner.
I'm certified as an adultgerontology acute care nurse
practitioner as well as afamily nurse practitioner
and I specialize in primarycare, employee health as well

(03:25):
as sickle cell disease.
I am so happy to be sittinghere with Sheryl today
to have this discussionon sickle cell disease.
I would like to add that Ido have financial disclosures
and those are, I am a speakerfor Pfizer Incorporated
as well as Emmaus LifeSciences Incorporated.

(03:45):
Well, welcome Dr. Henry.
It is such a pleasure to sit with you
and have this conversation today.
We should probably let our audience know
that we've never met
and that we were brought together
by our common interestin sickle cell disease
and a mutual colleague.
Our experience with sickle celldisease is quite different,
but I think our unique experiencesprobably should help our

(04:05):
audience to have a broadunderstanding about sickle
cell disease.
So I would just liketo ask you, Dr. Henry,
how did you become involvedin sickle cell disease?
I became involved insickle cell disease simply
because I went back to get my doctorate
and I really wanted tohone in on a specialty.
My focus was always anunderserved population

(04:28):
and so I knew that there wasa great need in sickle cell
disease, so I landed there.
It became a passion for me.
It became purposeful for me
and since that time I was aprovider in a comprehensive
sickle cell center forabout six years or so.
And then I went on to be aresearch assistant to help

(04:49):
with the research, the clinical research
and trials in the clinic
and then academia where I was able
to teach about sickle cell disease.
Excellent. So at the beginning,
our paths are totallydifferent now, I'll just say
that I can't recall a timewhen I didn't know the words
sickle cell disease as a kid.
I remember my mom discussingit when I was young,

(05:09):
but I just really understoodas something that was kind
of passed on from one person to another,
didn't know all the details.
I've always known at least one person
with sickle cell disease andmany that have had the trait
and I've always thoughtit was interesting.
But what I found veryinteresting is regardless of
where I was with, you know,studying for school, whether

(05:30):
or not it was first undergrad degree
or second undergrad degree,while I knew about people
with sickle cell disease, it was kind
of like a whisper in the curriculum.
We didn't hear a whole lot about it.
Like I heard about othergenetic disorders, how
to recognize them, treat them, et cetera.
But sickle cell to mewas more of a, a whisper.
And so as I started practicing,

(05:52):
I learned a little bit moreabout sickle cell disease
and got involved with theAmerican Red Cross trying
to get diverse donorsto donate for patients
with sickle cell disease.
And then we also did a pilotstudy here at the University
of South Carolina looking at
what nurse practitioners knowspecifically primary care
nurse practitioners and theirknowledge about patients

(06:13):
And so I've just continuedto work with it ever since.
So that's a little bit about my journey.
That's great. That's agreat journey to be able
to go into this populationlearning that way.
So, awesome. Thank youfor sharing that Sheryl.
Absolutely. I think to,to kind of get us started,
we probably should just lay a little bit

(06:35):
of the foundation about, you know,
where does sickle cell comefrom the pathophysiology
and then we'll, you know, we'lldo some of the medications
and things like that.
You know, although I felt like,
and I'll say it was me, Ifelt like it was a whisper
regarding sickle cell disease.
You know, globally thereare about 300,000 infants
that are born annually withsickle cell disease worldwide.

(06:57):
That's a lot of infants born worldwide
And it's several areas that we have
to think about when wethink about patients
with sickle cell diseaselike Sub-Saharan Africa,
the Middle East, India,parts of the Americas
where the populations ofAfrican, the Mediterranean,
middle Eastern or Indian descent live.

(07:20):
I always find it interestingthat we see a high incidence
of sickle cell diseasein high income countries.
But if you stop and thinkabout it, we think we have
to think about things like migration and
because there's been a littlebit of increased awareness
around sickle cell and that'sjust thinking about globally
and then we start thinkingabout what's happening in the
United States, how manyindividuals in the United States

(07:42):
does sickle cell really affect?
And I saw when I was looking at this,
it's about a hundred thousand people
and with more than 90%being non-Hispanic, black
or African-American
and an estimated 3 to9% are Hispanic or Latino.
So I just found that very interesting.
And then when we think aboutbabies that are born one out

(08:04):
of every 365 black or African American births
or one out of every 16,300Hispanic American births,
that's a lot of babies to saythat we still have a long way
to go with this particular disease.
What are your thoughts about that?
Yeah, I, I agree.
So we, what we know for certain is

(08:25):
that sickle cell diseasedisproportionately affects African
American descent and Hispanics.
But what we cannot leaveout of the conversation is
that it's not just adisease that affects those
of African descent, it also affects those
of Mediterranean descent, Asian descent,
Indian descent, and European descent.

(08:48):
So what I like to talkto my students about
and even anyone that I'mdiscussing sickle cell disease with is
that sickle cell disease, it's not a black
or Hispanic condition.
It is definitely a globalcondition that affects anyone
of any race simply becauseit is a genetic disorder.

(09:11):
And so you mentioned migrationand what that looks like
and how it started in Sub-Saharan Africa
and now we've broughtit across the Atlantic
and the United States
with approximately 100,000 individuals.
So we have to keep in mind that
because we have trans
basically translated across the seas,

(09:35):
anyone can have sickle cell disease.
Predominantly in the United States,
we do see African Americansas well as Hispanics,
but I've also encountered individuals
and met individuals who are Indian
with sickle cell disease mainly
because there are differentvariants or types.
And we'll get into thata little bit later.

(09:56):
I absolutely agree thatit's important to point out
that this is not just the black disease,
it's often been labeled that.
And I think when that happens we miss
the broader population as well.
And so I think it's veryimportant to think about
how we've migrated fromcontinents to the United States.
So I'm so glad you brought that point up.

(10:18):
I think the other thing thatwe need to cover today outside
of one of the areasthat we'll cover later,
social determinants of health,
but I think we also need to goback to some pathophysiology.
Sickle cell disease isquite a complex disease.
And so the pathophysiology,
you could literally write abook on just the pathophysiology
of sickle cell disease by itself.

(10:40):
But I think for today
and for this particular podcast,
we probably should justkeep it fairly simple so
that it's easy to grasp so
that when the medicationsare being covered, then
that pathophysiology can align with that.
And so at the beginning ofthe podcast we alluded to
that this is a hereditary blood disorder.

(11:00):
So I wasn't wrong as a kid,
I was not wrong when Isaid it was passed from one
person to another.
It is an autosomal recessive pattern
and it's characterizedby that production of
that abnormal hemoglobin molecules
that cause our red blood cells
to take on a crescent or sickle shape.
And oftentimes when I think about that,
because I can be a visualperson, I think about, you know,

(11:22):
when we're in school theytell us the red blood cell,
it looks like a donut.
If you just imagine a donut shaped cell
and you think about howeasily that should just flow
through the vessels and thenwhen you think about sickle
cell disease, you thinkit's a sickle shape like a
half moon.
And you think about there aretwo points on that sickle.
And so if you think aboutlooking at it that way,

(11:45):
you can begin to understand why patients
with sickle cell disease experience pain
because you've got normal redblood cells that just flow
through, move through,
and then you've got the cell that's sickle
that can just get stuck.
And so you begin
to really visualize whythey're having so much pain.
When we're thinkingabout sickle cell disease
with the pathophysiology, we know

(12:06):
that there's a mutation in the gene.
And I'm gonna try not toget too in the weeds here
'cause it's very easy to get into weeds
The mutation in the gene responsible
for producing hemoglobinis the beta globin gene.
And so we know that hemoglobin,
it carries our red blood cells
and so you know,

(12:27):
it transports our oxygenthroughout the body.
However, our patients
with sickle cell diseasehave an abnormal hemoglobin,
what we call hemoglobin S
and that's the one we'll focus on today.
More specifically for those
who really wanna get into the genetics,
I promise this is the onlylevel that I'm going to go
that's very specific isthat there is a switch,

(12:49):
a single nucleotide substitution
and that's where there's areplacement of that glutamic acid
with the valine at thesix beta globin chain.
So if you just remember,there's a single switch
simplest way to do it.
So when you have thehemoglobin S instead of
that nice red blood cellthat's biconcave passing

(13:10):
through the blood, it's goingto become stiff and sticky.
And so it can result in deformation
and it reduces the ability ofthat red blood cell to flow
through the small blood vessels.
So when you're thinking aboutyour patients that have sickle cell,
just try to imagine what'shappening with their blood.

(13:31):
We also know that when this happened
that blood is less oxygenated.
The other part to rememberis the length of the days
for the red blood cells.
So red blood cells typicallywill live about 120 days.
For a patient who has sickle cell disease
those cells really onlylast 10 to 20 days.

(13:52):
So our patients will have chronic anemia.
So let's stop
and think about smooth sailing,
red blood cell is theway I like to see it.
And a sickle cell, what happensin that blood vessel
that sickle cell can blockthat blood flow, it's going
to reduce that oxygen delivery
and that can cause organ damage over time.

(14:16):
I'm pretty sure we'll getto some of that later on.
So what other thoughtsdo you have about any
of the pathophysiology? Dr. Henry?
You did a phenomenal jobof giving a good foundation
of the pathophysiology, soI appreciate that Sheryl.
What I do wanna add is whenwe think about sickle cell

(14:36):
disease, I want some keyterms for our listeners
so they understand andthey see those terms
and understand what they mean.
One would be polymerization.
Okay, polymerization isthat process that you just,
it's a cascading event that takes place
So of course we know

(14:56):
that the red blood cell is deoxygenated,
meaning it does not haveenough oxygen to flow
through the rest of the body
and give the body what it needs.
When those red bloodcells are deoxygenated,
those individuals with sicklecell disease become anemic
or have anemia.
Okay. So now they are living life

(15:20):
with red blood cells that donot have enough oxygen in them.
You also mentioned a veryimportant point by saying
that anyone else without sicklecell disease has red blood
cells that last about 120 days.
Anyone with sickle cell disease,
their red blood cellslast about 10 to 20 days.

(15:41):
When that happens, those red blood cells
that last anywhere from 10to 20 days begin to burst
and pop open.
That process is called hemolysiswhen those red blood cells
are bursting and popping open.
So these individuals areliterally losing those red blood
cells every 10 to 20 days.

(16:01):
So now we have anemia,
which is a decrease in the red blood cells
and then we have hemolysis
where those red bloodcells are bursting open
and popping open so they'renot viable to be able to use
for oxygen to flow through the body.
Also because we have thesered blood cells that are rigid

(16:25):
and sticky
and hard to flow throughvessels, they cause
what I typically explain asa traffic jam in the vessel.
So this traffic jamactually occludes the vessel
or cuts off flow to the vessel
and in those areas thoseindividuals will have pain.

(16:45):
What we typically hear isvaso-occlusive crisis or VOCs.
And so the cascading events
of sickle cell diseaseinclude anemia, hemolysis,
and VOCs.
And the VOCs are thosepainful sickle cell crises
that we typically willsee in clinic settings in
emergency room settings.

(17:06):
And that's when we haveto interject, intervene
and make sure our patientshave the care that they need
as nurse practitioners.
So thank you Sheryl for thatfoundation of pathophysiology.
Is there anything elseyou would like to add
to the conversation?
I'd just like to add twoother terms that we may hear.

(17:26):
And this is around someonewho only has one copy
of the hemoglobin S alleleversus someone who has two.
And so the person who, theindividual who has one copy,
we would say that they are a carrier
or they have the sickle cell trait
and these individuals aretypically asymptomatic.
And then the individualswho have two copies of

(17:47):
that hemoglobin S allele,those are the individuals
that have been diagnosedwith sickle cell disease
and they are most likelygoing to be the ones
to experience the disease full symptoms.
So just in case anyone'shearing, if a patient walks in
and they say, well I have the trait
or I have sickle celldisease, understanding what

(18:07):
that potentially means for that patient.
Yes. Yes, that's that'sgood to clarify. I love it.
I absolutely love it.
One additional thing that I'll add
as well is when we talkabout this cascading events
of sickle cell disease,the anemia, homolysis
and vaso-occlusive crisis,we cannot leave out the fact
that that entire eventcauses end organ damage

(18:32):
which ultimately can lead to the demise
of individuals livingwith sickle cell disease.
And so it's so importantfor us to understand
how complex sickle cell disease is.
And you mentioned thatearlier in the discussion.
So end organ damage is something
that we want to at allcosts try to prevent

(18:53):
with this disease process.
Absolutely. And I think let'stalk about, you know, some
of the signs and symptoms
that nurse practitioners may see whether
or not it's in the primary care setting,
the emergency department.
Let's talk about some thingslike diagnosis, referrals
and we certainly gotta getback to that end organ damage

(19:14):
'cause I think there's a rolefor the primary care to help
with that prevention.
And so try to pull this alltogether for our audience.
Let's talk about some of the signs
and symptoms that you may see.
And I believe I heard yousay earlier in the podcast
that you're at a sicklecell designated center
or you've practiced at one previously

(19:36):
and what that looks likefor a patient who goes
to a sickle cell designatedcenter versus my experience
where I saw patients inthe urgent care just so
that we can see the differencesof what providers may see.
Right. So the first thingI wanna say is sickle cell
disease, although there may be genotypes

(19:57):
and genotypes is the typeof sickle cell you have.
And today we're talking aboutpredominantly the S allele.
So SSSC, those are genotypesof sickle cell disease.
Although individuals may have those types
of sickle cell disease, sicklecell is very individualized.
It's complex but it's individualized.
And so our patients may presentcompletely differently from

(20:22):
another, but some of thosecardinal symptoms or signs
and symptoms that we see wouldbe number one, recurrent VOCs
or recurrent, you know, paincrises on a regular basis.
We talked about anemia being something
that we see on a prettyregular basis as well
as acute chest syndrome.

(20:42):
And so I wanna pin rightthere at acute chest syndrome
and say that acute chestsyndrome is more than
just pneumonia.
Okay. We typically hear,oh it's just pneumonia,
give them some antibioticsfor sickle cell disease,
acute chest syndrome canliterally lead to death.

(21:04):
It's a situation where theseindividuals may not be able
to breathe, they can gointo respiratory distress
and ultimately failureif it's not treated.
And so it's urgent for usto be able to take care
of our patients when theyhave acute chest syndrome.
It is an emergency, thisis a sickle cell emergency.

(21:26):
And so some of the things they may present
with would be fever, cough, back pain,
chest pain.
So these are some thingswe need to look for
with acute chest syndrome.
Other symptoms could be chest pain
or any heart related symptoms.
Okay. And then we may evensee some delayed developmental

(21:46):
milestones in the earlier years
with those pediatric patients.
And so making sure that weare paying close attention
to the milestones that wesee in the pediatric realm.
And of course earlier wementioned end organ damage.
And so we want to make sure
that we are paying closeattention to the organs,

(22:08):
how they are profusing,how they are working.
And some of those organs
that are easily damaged can be the spleen.
We can see splenic sequestration
where there's a sickle cellcrisis literally in the spleen.
The spleen fills up with blood
and typically if we can't getthat blood out, we will have
to remove the spleenand have a splenectomy.

(22:30):
Kidneys are affected as well.
We see a lot of individuals
who may have decreased kidney function.
And then the eyes, whenwe talk about the eyes,
we wanna know what'sgoing on with the eyes.
Retinopathy is so profoundin sickle cell disease
and that's when those verysmall vessels in the retina are
occluded with sicklecells or red blood cells

(22:53):
and ultimately it can lead to blindness.
And so we wanna becognizant of that as well.
Bones are also something thatwe need to pay attention to,
particularly avascular necrosis.
Avascular necrosis is whensome of those long bones
and hip bones, the jointsthemselves don't get enough blood

(23:15):
flow and it causes extreme pain.
So we have all of these cardinal signs
and symptoms that we may seewith our patients who present.
Most times we think, oh it's just pain,
but it's so much more than pain.
We have to be investigators in their care
and determine why they are having pain

(23:35):
because if not, we couldpotentially miss signs
of impeding end organ damage.
And so that's some of the things that we,
that I've seen in practice before.
So tell me a little bit about
what you've experienced inregards to some of these cardinal
signs.
Absolutely. I loved
when you used the word investigator

(23:57):
because that's really what we have to do.
So I practice primarily in anurgent care center previously,
which is where I had myencounters with patients
And so because we were an extended
after hours, sometimes patientswould come in, the keyword
that you said was investigator.
And I recall having someone come in

(24:20):
and I received a chart at the back
and the individual whobrought me the chart said,
should we send them away
because they have a bunch of pain meds
and we don't do pain management here.
And I said, no, we need to bring them back
and find out what's going on.
So we brought the patient back
and in this case the patientwas a pediatric patient

(24:42):
and talked to the mother
and found out really the mother was trying
to avoid the emergency room
because they had not had good experience
at the emergency room.
And so what she wanted wasjust some fluids for her kid
until that she could see herprovider the next morning.
She was like, I've got thepain meds, I've done this,

(25:02):
I know what's getting readyto happen, I just need fluids.
And if we had not takenthe time to investigate
what the patient needed,
that would've been an unnecessary visit
to the emergency room.
The mother had everything else,
she just felt like herkid needed some fluids.
And so we always have totake that time instead

(25:24):
of judging ahead of time,take that time to find out
what the patient needs andsee if we can provide it.
I think the other thing thatyou said was so interesting was
around the acute chest syndrome
and thinking about, you know,we're in the season right now
for pneumonias and everything else.
And so making sure

(25:45):
that we understand when apatient presents to be seen,
if they're coming in with a cough, fever,
looking at their history,looking at their medications,
what if somehow they forgotto put sickle cell disease
as one part of their medical history?
Most will not. But in caseit happens, it's important
that we're able torecognize those medicines

(26:06):
and ask questions, do youhave sickle cell disease?
'cause that can make a differenceif you are in an urgent
care setting, whether or not you're going
to recommend this persongo over for admission
or a very fast follow upin less than 24 hours.
So I think learning those cardinal signs
and symptoms, it changes how you approach
that management from the time

(26:27):
that person enters into your facility.
Whether it's an urgent care,it's an emergency department
or if it's the primary care setting.
Because where if it's someone
who doesn't have sickle celldisease, you may say, okay,
I'm gonna start you on these antibiotics,
come back in 48 hours.
That may not be thething for this patient.
That patient may need to bemoved over for an admission so

(26:48):
that they can be cared forand watched for carefully.
So it's always asking thosequestions, taking the time
to speak with the patient,find out what's going on
and trying to withhold
that judgment when yousee medications list.
'cause you're right, it's somuch more than just their pain.
Absolutely.
You mentioned somethingthat I, I definitely want us

(27:11):
to discuss.
You said withhold the judgment.
So that takes me tothinking about a little,
a little bit about implicit bias
and even some of the socialdeterminants of health
around sickle cell disease
that we see in the healthcare system.
Can you tell me a littlebit about your experience

(27:31):
around the social determinants of health
or even implicit bias inregards to sickle cell disease
that you've either experiencedyourself, you've heard,
or even patients have shared their
stories and told you about?
The scenario I just shared was one
that actually happened in the urgent care
that I was involved in.
But one of the patients,
and actually I will just share with you

(27:53):
because I have permission,when I told them,
I said we're going to do apodcast on sickle cell disease.
And I said, I want to know from you
what would you like nurse practitioners
and healthcare providers toknow about sickle cell disease?
And so they were kindenough to actually respond

(28:13):
to the email
and they said to me, sicklecell patients do not need
to visibly show pain
to be experiencing a severe pain crisis.
And they said, this is thechallenge I face frequently
as I often do not appearto be in distress.
And unfortunately they saidif they do not explicitly

(28:36):
themselves address their pain,
oftentimes the providerwill forget. When they go
to the emergency room, they'reoften not taken seriously
because they don't typically fit
what the pain scale chart says.
So they're not frowning,they're not grimacing.
And so because they don't look that way,

(28:57):
the providers don't believethat they're having any pain.
And so the beautiful thingthat they said at the end,
it says, at the end of the day,
sickle cell patients are humanbeings deserving the same
empathy and care as anyone else.
Yet when we seek medical assistance,
we're often left waiting, forced

(29:18):
to endure unnecessary suffering for hours.
The treatment is not only unfair
but detrimental to ourhealth and wellbeing.
And so that was what Ireceived when I, you know,
let them know that this podcastwas going to be occurring.
And it's so sad to hear.The other thing as one

(29:38):
of the organizations here in the Midlands,
we did a a benefit couple years ago
and we had patientswith sickle cell attend
and to have a patientstand up in the audience,
share their story
and cry about some of the encounters
that they've had within thehealthcare system, it was just
so heartbreaking.
It's the healthcareproviders don't believe them.

(30:01):
It's finding a healthcareprovider who knows how
to treat them can be challenging.
And so once they findsomeone, they try to hold onto
that person because itmeans that so much to them.
To have a healthcare providerwho's willing to treat them,
believe them, see them for who they are.
Some of the challenges just in general
with social determinants ofhealth is finding, you know,

(30:24):
if there's a designated sicklecell center within your area,
they're not prevalent everywhere.
So sometimes patients havetheir primary care provider
that they really have to go to
because it can be so hard
to get into some sort of specialist.
I'm in a state that's pretty rural.
We look at transportation,being able to get, get back
and forth to see your specialist

(30:45):
or your primary careprovider can be challenging.
Social determinants ofhealth impact patients
with sickle cell disease so much
we could just spend probablythe next 30 minutes talking
about some of thechallenges that they face.
And we're not even talking about
if we're just looking at the adults
and not even the children.
We think about children, wethink about their education

(31:06):
where sometimes they have to miss class
because they can't be inbecause they may be dealing
with sickle cell disease
and how that impacts them,how it impacts their parents
and their ability to work.
I mean it's so complex.
There's so much to discussaround social determinants
of health and implicit bias.
Now we're gonna shift a little bit.
We've talked about the pathophysiology

(31:28):
of sickle cell disease,
we've discussed hemoglobinS formation, what
that looks like.
We've talked about some cardinal symptoms
and signs that providers can look
for in sickle cell disease.
As nurse practitioners, it'simportant for us to know
how we diagnose sickle cell disease
and not only how wediagnose sickle cell disease

(31:50):
but how we're able to treat the disease.
And so what I would like todo is kind of talk about some
of those diagnostictools that we have to use
to actually diagnose thoseliving with sickle cell disease.
First I would like to say
that newborn screeningis the top tier tool

(32:13):
for detecting whether anindividual has sickle cell disease
or sickle cell trait.
Newborn screening is doneon every newborn in the
United States.
Up to date, all 50 stateswill do newborn screening.
This was actually mandated
that all 50 states hadthis done in 2006.
And so I'm very, very happyto know that at least all

(32:36):
of our children that arebeing born will have newborn screening
and we'll be able to detect whether
or not they have sickle celldisease or sickle cell trait.
Now that does not mean
that sometimes there may be a situation
where it's missed, right?
There may be a situation
where the newborn screening is positive

(32:56):
and that information is nottranslated to the provider
or translated to theappropriate institution
and those parents may notfind out. The same goes true
for those with sickle cell disease.
So there are other ways for usto be able to determine this.
One way is with a sickledex
or a solubility test,this particular test helps

(33:18):
to detect the presence
of sickling hemoglobin in a blood sample.
Most times we see thisutilized at health fairs
or screening fairs that wemay see in the community
and also in the emergencydepartment if healthcare providers
want to see if someonepossibly has a hemoglobin
that sickles it is not themainstay for diagnosing

(33:43):
sickle cell disease
or having a diagnosisof sickle cell disease.
One other diagnostic modality that we use
of course is the CBC or thecomprehensive blood count.
That's so important
because it gives us all of theblood products that we need
to see and how theseindividuals are doing in regards
to hemoglobin, red bloodcells, reticulocyte counts

(34:06):
and things of that nature.
I'm gonna pause rightthere just for a moment
and say something aboutreticulocyte counts
that I think is veryimportant for our listeners
as nurse practitioners tounderstand when we're in these
urgent care settings andprimary care settings
and even the emergency room,typically what we know is
that if someone with sicklecell disease comes in,

(34:28):
we always get labs, right?
We will get a CBC.
The first thing wetypically look at is the
reticulocyte count.
As healthcare professionals, we understand
that the reticulocyte countare immature red blood cells.
So those are red blood cellsthat are in the bone marrow
that are waiting to be pushedout so they can go to battle

(34:49):
with the rest of the red blood cells.
But when we go back to the pathophysiology
that we discussed, those living
with sickle cell disease have anemia.
They don't have enough redblood cells to go to battle
and get the oxygen throughthe rest of the body.
So what happens is thebone marrow pushes out the

(35:11):
reticulocytes out of the bone marrow
and it goes out to fight.
So now you have immature
or baby red blood cellsthat are working the battle
of getting oxygen throughoutthe rest of the body,
which means if they are pushingout more red blood cells
or more reticulocytesinto the bloodstream,

(35:33):
their reticulocyte count will be elevated.
Okay, so I wanna just do alittle myth busting right here,
Sheryl, if you, if you don't mind.
Absolutely.
Just because someone has anelevated reticulocyte count
does not mean that theyare in sickle cell crisis.

(35:54):
If their reticulocyte count is low,
that does not mean thatthey're not hurting.
What we have to do islisten to our patients.
There is not a biomarkerto determine whether
or not someone is in pain
or having a vaso-occlusive crisis.
So note to all

(36:16):
of our wonderful nursepractitioners that are listening,
we cannot look at reticulocytecounts and determine whether
or not someone with sicklecell disease is having a
sickle cell crisis.
What we know is if it's elevated,
they will have an elevated number
because more of those reticulocyte counts
are going to battle.

(36:36):
Now this may change based on the type
of sickle cell disease that they have.
Reticulocyte countswill be higher in those
with hemoglobin SS.
Alright, so moving on tomore diagnostic modalities.
There's also a hemoglobinhigh performance liquid
chromatomography.
What is that? It is a blood test

(36:58):
that identifies hemoglobin variants
and suggests clinical disorders.
So what it does is it helpsus to determine what type
of hemoglobin variant there is.
I've talked a lot about different types
of sickle cell disease.
This is the tool that weuse to determine the type
of sickle cell disease someone may have
because it's more than justhemoglobin SS or hemoglobin SC.

(37:23):
There are variants thatactually include thalassemia.
So there may be S thalassemia,so many different variants
of sickle cell disease, butthis is the tool that we use
to actually determine that.
And then we havehemoglobin electrophoresis.
This measures the differenttypes of hemoglobin in the blood
so we can see the type ofhemoglobin in the blood.

(37:46):
We use all these tools to help determine
and help us have clinicaldecision making for those living
And we can't leave out genetic testing.
It's very important tohave genetic testing
because we started thisconversation by saying
that this is a genetic disorder, right?
It's inherited. So those are just some

(38:09):
of the diagnostic modalitiesthat we use in the care setting
to help us develop a plan ofcare for our individuals living
I love it. I, I love whenyou talked about the
reticulocyte count
and that not being theindicator of whether

(38:29):
or not the patient was having a crisis.
And the key is to listento the patient. These patients live
with this 365 days a year.
They can tell you better thanany textbook what's getting
ready to happen to their body.
And so our duty is to go into that room,

(38:50):
sit with our patient,hear what they're saying
and listen and try to help themversus getting our labs back
and saying, well they saidthat they're having a crisis
but this doesn't show a crisis.
And then not believing them
because then that means theyhave to go somewhere else.
So I love that pearl thatyou gave about listening

(39:13):
to the patients and notnecessarily always relying on what
that reticulocyte count says.
It can save our patientstime, it can help them
and it helps us to decrease barriers
for them if we're justwilling to listen to them.
So we talked about cardinalsigns and symptoms.
We talked about how it's diagnosed,

(39:35):
let's talk about medications.
I mean there, you know thereare medications out there
but there are not as many out there
as there are blood pressure medications.
So let's talk aboutsome of the medications
that nurse practitionersshould be able to recognize
and how those medicationsare affecting patients

(39:57):
And perhaps if you have any pearls
around if there are anyinsurance barriers when those
medications are being prescribed.
Let's get into the medications.
So this is definitely something
that nurse practitionerswant to know about.
We wanna know what can we doto help the process in regards
to treatment modalities.

(40:19):
The first line of treatment
for sickle cell disease is hydroxyurea.
Hydroxyurea has been around for decades.
This we know, we also know
that it is a chemotherapeutic agent
but it's used in sickle cell disease
for a very specific reason.

(40:39):
Its mechanism of action is actually
to increase fetal hemoglobin.
Fetal hemoglobin is babyblood with term fetal right?
And so those are redblood cells that do not sickle
and they're really, really large.
The MCV of those are large
and so it's really a protectivemeasure for those living

(41:00):
It's a protective measure
because now since they have alarger red blood cell on board
that does not sickle, thatgives them more oxygenated blood
to help perfuse their bodyand get to their organs.
So sickle cell disease is definitely one
of those disease processes where we want
to have increased oxygen.

(41:22):
Hydroxyurea helps that becauseit increases fetal hemoglobin
and just for a little bit of another pearl
or gem that we can add, all of us are born
with fetal hemoglobin
and at about six months of ageour fetal hemoglobin is gone.
Right? And so
what hydroxyurea does is itincreases that fetal hemoglobin

(41:45):
so it keeps those levels high.
So that's one of the drugs that is used.
There are four drugs thathave been FDA approved
for treatment for sickle cell disease.
Hydroxyurea is one of them.
I'm gonna go through the next couple
and then we'll talk about thelast one when we get there.

(42:05):
Crizanlizumab is another medication,
it's a P-selectin inhibitor.
It has been shown
to reduce vaso-occlusivecrisis in a phase two trial.
This medication has been approved
to actually reduce vaso-occlusive crisis in adults and
pediatrics 16 years of age and older.

(42:27):
And so it is an injectablemedication. It has to be infused.
This is one that has been used
and it has shown to behelpful for some individuals.
Remember sickle cell diseaseis very individualized
and so as healthcareproviders we have to work
with our patients and have somegood shared decision making
on which treatment modalityworks best for them.

(42:51):
The next FDA approved drug is L-glutamine.
Now most people will sayL-glutamine. That's a vitamin.
Well it's, it's an amino acid actually
and it helps to work todecrease oxidative stress.
So we all have oxidativestress within our bodies.
But this particular amino acid helps

(43:12):
to decrease the oxidativestress in the body.
It has been FDA approved toreduce acute complications
of sickle cell disease
in adults and pediatric patientsfive years of age and older.
So with all of thesemedications, what we're looking
for is individuals whohave had at least one

(43:32):
to two vaso-occlusive criseswithin a 12 month span.
And so that's very typical forthe sickle cell population.
The next drug that wasFDA approved was voxelotor.
It is a hemoglobin Spolymerization inhibitor.
There's that term we talkedabout earlier, polymerization

(43:54):
and its mechanism of action is actually
to increase the affinity of oxygen
that's circulating in the blood.
So it increases thehemoglobin levels, it's shown
to be meaningful to increasethose hemoglobin levels.
And it was FDA approved for the treatment
of sickle cell disease in adultsand pediatric patients four

(44:15):
years of age and older.
Just recently voxelotor waswithdrawn from the market
voluntarily and so it'sno longer in use for those
who were taking the medication.
And so that's one of the issuesthat we are probably dealing
with now and we have to berealistic in those issues

(44:38):
to talk about how that feels
and what that looks liketo have a medication
that actually increases yourhemoglobin, something that is
otherwise low and nowyou no longer have that.
So those are the four medicationsthat were FDA approved
with the one exception, well all
of them were FDA approved,

(44:59):
but voxelotor was voluntarilytaken off the market.
Some other treatments
or modalities for sicklecell disease actually include
hematopoietic stem cell transplant,
particularly allogenichematopoietic stem cell transplant.
This has thought to be the only true cure

(45:21):
for sickle cell disease,
but I like to say
that sickle cell diseaseis a genetic disorder.
It's part of your DNA.
And so even if you havea stem cell transplant
that does not change your DNA.
And so we have to keepthat in mind when we talk
about curations.

(45:41):
But one of the thingswith with the transplant
or bone marrow transplant isthat it's very complicated.
It's a complicated process,it's a complicated procedure.
It's usually reserved for those
who have had some severe complications
with sickle cell disease. Andone of those huge complications
that could take place

(46:01):
with these bone marrowtransplants is actually graft
versus host disease.
And so one of those processwhere we definitely want
to be connected with a good care team
and a bone marrow transplant
or stem cell team thatreally know the work
of this particular procedure.
But it is one that has beenshown to be effective for a lot

(46:24):
of individuals.
There has to be a matchedsibling in order for this
to take place, whichis sometimes difficult
but definitely has proven tobe effective for treatment.
Now I'm gonna move on totwo more recent therapies
and those are gene therapies.
These are pretty new.
Both of these are changing

(46:45):
because they have been FDAapproved for the treatment
of sickle cell disease inin those 12 years of age
and older with recurrent VOCs.
And so one is Casgevy that hasbeen used and FDA approved
and the second is Lovo-cel that has been approved
for sickle cell disease

(47:05):
and the treatment thereof.Gene therapy can be
very intriguing.
It is also very scienceheavy and science based.
And so I don't want us to getinto all of the nuances of
what this looks like,
but definitely these aretwo treatment modalities
that can be used and they areon the market FDA approved.

(47:26):
There have been clinical trialswith both of these gene therapies
that have proven to beeffective in sickle cell
disease treatment.
And so that lets us knowthat we have a lot of hope
that there are a lot oftreatments on the market
that are emerging
and there are a lot of thingsthat we can do in regards
to sickle cell diseaseto really bring in more

(47:48):
treatment modalities.
To your point Sheryl, whenwe talk about hypertension,
we can talk about somany different therapies,
but with sickle cell diseasewe have now three therapies
that can be used and then wehave bone marrow transplant
and two gene therapies andthat's what we have to work with.
And so we are hopeful

(48:09):
that there are more treatment modalities
that will be coming in the future.
Absolutely. I mean you shared so much
regarding the treatment modalities,
although there were only fourapproved with the recent loss
of one back in September.
We're still hopeful for patientswith sickle cell disease,
particularly around gene therapies.

(48:31):
And I think it's importantthat we keep our eyes
and ears open
and listen to what's being developed
even in the primary care setting
because if your patientwith sickle cell walks in
and says this is the therapythat I'm going to have,
you need to understand howthat's going to interact
with any other potential medications
that you're prescribing.

(48:51):
So I think we remain hopeful
and I just remember when theywithdrew that last medication,
receiving a text from someone saying
they've withdrawn my medication
and you could, I couldfeel the panic, at lease I
have this much left before I run out.
This is what our patients
with sickle cell diseaseare dealing with. Now

(49:12):
with those particularmedications, are there any pearls
that nurse practitionersshould be made aware
of if they're trying toprescribe them, particularly
around health insurance, whether
or not there are anybarriers that they need
to consider when they're writing those?
I know that hydroxyurea hasbeen around for many, many,
many years and it's been the mainstay, is

(49:34):
that their go-to first
and then they need to thentry some of the other ones.
What's been your experience
with insurance companies with that?
So insurance companies willdefinitely cover hydroxyurea.
To your point, it hasbeen around for decades.
That's not one we have
to worry about whether itwon't be covered or not.

(49:54):
The good thing about theother two drugs endari
or L-glutamine in crizanlizumab
or Adakveo, those two, theyhave good programs connected
with their particularpharmaceutical companies
where nurse practitionersor social workers
or case managers can reachout to those companies
and they have programs,patient care programs

(50:17):
that could connect andthen you know, make sure
that they are connected withthe pharmacy to help pay
for some of those medications.
So those programs are available toreally help offset the cost.
In the clinic that I was working in,
I did not have any issues
with our patients gettingany of these drugs.
So that was very hopeful for them as well.

(50:39):
So our experience has been good.
Our patients have beenable to get those drugs.
Another good thing to understand is
that hydroxyurea can be used
with all these other drugs.In the clinical trials
that were performed or donewith these drugs when they were
before they came to market.
And these were all donein either a phase two

(51:00):
or phase three trial.
A lot of these medicationswere actually tried
with hydroxyurea
and it was shown that therewas no contraindication
in using these treatmentmodalities with hydroxyurea.
So that's something to knowand that's good to know
because we don't want providersseeing our patients on

(51:21):
multiple drugs and thenstopping hydroxyurea.
Now as far as clinical pearlsgoing back to hydroxyurea,
we do know it's a chemotherapeutic agent.
We know that at some pointthere's a possibility
that the bone marrow can be suppressed.
And so it's so important to make sure
that they are monitoringthe CBC to make sure

(51:44):
that those counts are within normal range.
And if they're not, we areable to adjust the medications
or pause on the medications.
So that's very important to know. Also,
if you are not savvy
or if hematology is not your forte
and you're working in aprimary care setting, connect

(52:06):
with a hematologist
or connect with the sickle cell provider
who specializes in sicklecell disease, if you have one
that's near, because we,
we spoke earlier about therenot being enough providers
who specialize in sickle cell disease.
You can have your resources.
I think it's very importantfor primary care providers

(52:26):
and hematologists
who specialize in sicklecell disease to partner.
This has to be a team effortso we can do a better job
of taking care of our patients.
So those are the great thingsabout these medications.
They have been easilycovered with insurance plans.
They, as far as side effects,typically it's GI symptoms

(52:47):
that are the side effects.
And so that helps for providersto be able to explain these,
these side effects to our patients.
There's one additionalmedication that has gone
through clinical trials
and this is one that is not on market
but we talked about being hopeful, right?
And so this is an emergingdisease modifying therapeutic

(53:08):
agent and it's etavopivat
and it's a PKR activator
and what it, with thisparticular medicine there is
early stages of usingthis particular medicine.
It's an ongoing trial.
We're looking at this medication to see
how it can better help those
living with sickle cell disease.

(53:29):
So more on the horizon for medications.
Wonderful, wonderful, wonderful.
Now I heard you say inaddition to the medications,
as I was thinking about patientswith sickle cell, we need
to talk about the multidisciplinary care
of sickle cell disease.
'cause we talked about theprimary care provider working

(53:52):
with the hematologist,
but what that really needsto look like, you know,
if you're primary care,
in primary care, asking ifthere is some sort of care plan
for the patient with sicklecell to make sure that
that information is sent backto the primary care office.
I think that is importantso that everyone is talking

(54:13):
and on the same page so thatthe primary care is aware of
what the hematologist might be doing.
Hematologist is aware what theprimary care provider's doing
and of course in the centerof all that is the patient
with the sickle cell disease asking them,
do you know what's planned
for you in the next couple months?
How are you doing with the medications?

(54:33):
But I think also we shouldtalk about other specialists
that patient with sicklecell disease may need outside
of hematology.
When we think about end organ damage
and we think about prevention.
So my first, one of the firstones I think about would be,
you know, nephrology andeither an ophthalmologist
or an optometrist to make sure

(54:54):
that they're having the eyes examined.
You know, when we were in school,
at least when I was in school
and we're working withpatients with hypertension,
it was like you need to makesure you do your eye exam
to look at the vessels.
How often do we talk about our patients
with sickle cell disease
and say, make sure you do your eye exam
to look at their vesselsto see what they look like.

(55:15):
And doing those referrals.
What are some other referralsdo you think, outside
of nephrology, ophthalmologyin some cases, maybe cardiology
that primary care NPs need to be aware of?
That's a phenomenal question, a question
that we definitely want to provide clarity

(55:36):
around, right?
So typically with specialties,
we just work in our specialty.
If you are a cardiologynurse practitioner,
you are doing the heart and that's it.
Don't give me the kidneys, right?
Sickle cell disease is such acomplex disease that we have
to look at the entire picture.
It there is more of a holistic approach

(55:58):
to care when it comesto sickle cell disease.
And so we need a multidisciplinary
and interdisciplinaryteam approach to care
for these individuals.
So not only a sickle cellspecialist or hematologists,
but we do need primary care.
You're needed as the primary care provider
because we need to make sure
that health maintenance is taken care of

(56:20):
and we are going over thethings that to be addressed.
What we can't forget is that just
because you have sickle cell disease,
you're getting older mortalityrate in sickle cell disease
is about, it's, it's gettinga little bit older now.
Before it was about 45, 46,
now we're seeing closer to 50.

(56:41):
So what does that mean froma primary care standpoint?
Women need to have mammograms,we need colonoscopies,
you know, we need all these things.
So primary care is very important.
Cardiologists are needed
because of the cardiomyopathy
that can take place insickle cell disease.
We need the ophthalmologists,we need nephrologists,

(57:03):
we need endocrinologists,we need orthopedics.
Any organ in the body,any bone in the body,
we need a specialist attached to that
because sickle cell diseaseaffects every area of the body,
anywhere that blood flows,sickle cell disease affects.
So that's literally fromyour brain to your toes.

(57:25):
We need a neurologist.
And when we talk about holistic care,
not only do we need specialistsfor each organ of the body
that we can refer out to, wealso need a specialist to help
with anxiety, depression, coping
with having a chronic disease,

(57:45):
which means we need apsychologist or psychiatrist
or a psych mental healthnurse practitioner
that can come on board
and really help developsome coping mechanisms
and skills for someone who'sliving with this disease.
We need the entire team.
We need nutritionists, dieticians.
If you see a specialty in the hospital

(58:08):
that is working on helpingto make an organ better
or make the person better, we need them
for sickle cell disease.
And so my hope is that we can have more
of a comprehensive approach to care to add
to the holistic approach of care
and do a better job ofincreasing the quality of care

(58:30):
for those living with sickle cell disease.
Absolutely, and I'm just gonna add
for the patients, a pediatric patient,
they may need a schoolcounselor to be able to cope
with being in school and their peers
and being able to explain totheir peers what they're going
through, why there aresome days they're in class
and some days they may not be in class.

(58:50):
So it is a full teamon board from beginning
throughout the entire journey.
So it's not just one isolated specialty,
it affects every aspect of their life.
So before we wrap up, want to talk about
how nurse practitioners can remain engaged

(59:12):
with sickle cell disease, learningabout sickle cell disease
because as you can tell,
you know when you'rethinking about broadly, four medications
one recalled, couple newtreatments coming, still hopeful.
But when we compare that toother illnesses, hypertension,
asthma, and some of the otherillnesses out there, we know

(59:32):
that there's so much more thatwe can do for our patients
And so I'm just gonna kick off
with making sure everyone is aware
that sickle cell awareness monthis September of every year.
So please try
to engage in continuingeducation during that time.
Get out, advocate for yourpatients during that time.

(59:53):
If you're involved in policy,
make sure your lawmakersare aware of September
as being sickle cell awareness month.
Ask for funding.
We need more funding for research so
that we can do thestudies that are needed so
that medications can be developed.
Anything else you wanna add Dr. Henry?

(01:00:13):
Yes. When we're talking about
what nurse practitioners should know,
June 19th is World Sickle Cell Day
and that goes along
with September being sicklecell awareness month.
So that's something to toknow just to bring awareness.
But on top of includingawareness, I would love
for our nurse practitioners to know

(01:00:36):
that sickle cell disease,
although it's complex, it'ssomething that we can do.
We can handle it, wecan help our patients.
Our patients just want us to listen
and do what it is we saidwe we're going to do,
which is take care of them.
I think a charge toall nurse practitioners

(01:00:57):
and all nurse practitionerprograms is to make sure
that we at least have sometype of didactic content
for sickle cell disease in the curriculum.
I will be the first to say
that I probably had less than a paragraph
of information about sickle cell disease.
And what I learned when Iwas in nursing school is

(01:01:17):
that sickle cell diseaseis a blood disorder
that causes pain.
Alright, now let's move on
to whatever the next hematology topic was.
And so collectively as aprofession, we can do a better job
of educating our nursesand nurse practitioners.
I think you nailed it withthat charge, is that we've got

(01:01:38):
to do more with our curriculumand remaining engaged.
I think that's an excellent charge.
And I'm just gonna goback to what the email
that I received is just remembering
that sickle cell patientsare like other patients
and we need to have that empathy for them.
And that's my charge. Everyone.

(01:01:59):
we want to thank you for listening
to our conversation todayon Sickle Cell Disease.
We hope that you havefound this very helpful
and that you will engage withus in helping our patients
Sheryl and Artangela, thank youfor this excellent podcast.
To our listeners, thankyou for visiting NP Pulse.

(01:02:22):
This program and the accompanyingclinical reference tool
are made possible by a medicaleducation grant from Vertex.
Continuing education creditfor this program may be claimed
through December 31st,2025. To claim credit,
log into the CE center at
aanp.org/cecenter.

(01:02:45):
Search for this program byname and complete the post-test
and evaluation by enteringthe participation code SICKLE.
As always, thank you for theexcellent work you do every day
to take care of our patients.
Your feedback is truly important to us.

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