BSC-Disc7
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Topic-Discussion7-SickleCellDisease.pdf
This is a graded discussion: 30 points possible
due -
Discussion 7 - Sickle Cell Disease 48 51
8/16/23, 11:02 PM Page 1 of 48
Directions: Mutations are changes in the DNA sequence - some cause a
change in the proteins produced by that gene and others do not. Mutations
can cause positive changes in the proteins produced as well as negative
changes to the proteins produced or no change.
There is a mutation in the gene for hemoglobin that leads to a change in
one of the amino acids that compose the protein that is produced causing
sickle cell disease.
Do some research on sickle cell disease and consider the following
questions:
What type of mutation causes this disease?
How does this disease affect persons with this genetic disorder?
Are there aspects of sickle cell disease that could be of benefit a
person in any way?
Can you look at a person and see this phenotype? Explain.
Submission: After you have posted your initial post, read and respond to
two or more of your classmates' posts. Be sure to make substantive and
constructive comments (just posting “nice post” doesn’t count). For
example, add something from your own experience, something you’ve read
or seen. If the situation calls for it, feel free to state an opinion, but be sure
to state any points with which you agree and/or those with which you
disagree, as well as your reasons for agreeing or disagreeing.
Grading: This discussion is worth 30 points and will be graded using
the Discussion Rubric. Pease use it as a guide toward successful completion
of this assignment.
8/16/23, 11:02 PM Page 2 of 48
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Beyonce Miranda-Gomez (She/Her) (https://canvas.fscj.edu/courses/71848/users/129249)
Jul 5, 2023
After doing some thorough research, sickle cell disease is a red blood
cell disorder. You might be wondering, our professor stated that it
occurred with hemoglobin, which is true. Hemoglobin is found in red
blood cells.
For context, hemoglobin is a protein that transports oxygen. Obviously,
oxygen is very crucial in our survival, with low hemoglobin, we feel tired
and very weak. Sometimes, to a certain point, low hemoglobin can lead to
death.
In the context of Sickle Cell disease, think of it literally, "Sick Cell
Disease." Normal and healthy red blood cells are round and active. Sick
red blood cells are C-shaped formed, hard, and sticky. Since these cells
are poorly sick, they die easily and rapidly, which leads to a shortage of
red blood cells, a shortage of oxygen transport. If they don't easily die,
their "stickyness" leads them to clog up within themselves and clog up
blood flow, which damages your body all around, like a stroke.
8/16/23, 11:02 PM Page 3 of 48
Sickle Cell disease is a genetic disease. Meaning, that it is a genetic
issue, usually starting from birth. When two parents both have abnormal
hemoglobin, their genes are transmitted to their child, which creates
Sickle Cell Disease. However, this does not mean it is the end of that
baby's life since birth.
Sickle Cell disease is a "lifeful disease." Meaning, there are ways to live
through this disease. Mainly, that baby would aim to be healthy and
careful.
Can we see this disease? Yes, kind of. Usually people who have lived with
this disease have an issue with development and growth. They also tend
to be very prone to injuries. However, without this research assignment,
do you think if you were to see a young lady and think, "Oh yeah thats
definitely sickle?" I can say 99.9% of you would say no. Even with this
research assignment, I still believe that there could be many other
reasons why someone might be tired, weak, and etc.
Now you might think, is there really any good to come from this? Yes,
according to my research, there is one good. People with Sickle Cell
disease, because of their abnormal hemoglobin, are less likely to be
affected by malaria than people with normal levels of hemoglobin. It is
8/16/23, 11:02 PM Page 4 of 48
affected by malaria than people with normal levels of hemoglobin. It is
ironic, being sick keeps you from getting more sick by something else.
(https://canvas.fscj.edu/courses/71848/users/24335)
Brooklyn Rossi (https://canvas.fscj.edu/courses/71848/users/24335)
Jul 9, 2023
Your description of if the disease is visible is a better explanation
then mine. I had not considered the physical developmental issues
might be a visible . That being said I still believe those attributes
could be linked to a number of conditions, but it is definitely more
visible than blood analysis.
(https://canvas.fscj.edu/courses/71848/users/107427)
Bonni Haber (She/Her) (https://canvas.fscj.edu/courses/71848/users/107427)
Jul 9, 2023
Beyonce, great touch adding the photos of the red blood cells for a
clear depiction of what is happening with this mutation! It caught my
eye immediately and I enjoyed someone taking the time to put this
together for such a great representation on what is usually a plain
discussion! Great job and good info!
(https://canvas.fscj.edu/courses/71848/users/54253)
Corbin Miller (https://canvas.fscj.edu/courses/71848/users/54253)
Jul 10, 2023
8/16/23, 11:02 PM Page 5 of 48
Beyonce,
Thanks for adding the photos as it helps really give a good visual aid
for the reason behind the name of this genetic disorder. Also good
touch on the nickname being "lifeful disease" as it adds some
positive ideas behind something of this sort.
Great discussion!
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Eliana Curry (https://canvas.fscj.edu/courses/71848/users/148561)
Jul 10, 2023
Hello Beyoncé! I really like the illustrations you added and your
explanation of sickle cell disease!
One interesting fact about sickle cell disease is that it is most
commonly found in people of African, Mediterranean, Middle Eastern,
and Indian descent. This is because the gene mutation that causes
sickle cell disease originally arose in regions where malaria is or was
prevalent. The mutation provided some protection against malaria,
which is why it has persisted in these populations over time.
(https://canvas.fscj.edu/courses/71848/users/137316)
Alexis Clements (https://canvas.fscj.edu/courses/71848/users/137316)
Jul 10, 2023
8/16/23, 11:02 PM Page 6 of 48
Hello Beyonce,
Thank you for adding the visual representation for those of us that
are visual learners. The research you did on this topic was very
thorough, This was a great addition to the discussion board. Thank
you for your response.
(https://canvas.fscj.edu/courses/71848/users/142506)
Ashley Burris (https://canvas.fscj.edu/courses/71848/users/142506)
Jul 10, 2023
Hi Beyonce!
I am a sucker for a visual, thanks for adding this to your discussion!
Fun fact, since the hemoglobin is abnormal, it causes the red blood
cells to become hard and sticky which forces them to take on the 'C'
shape.
(https://canvas.fscj.edu/courses/71848/users/136481)
Heidi Street (She/Her) (https://canvas.fscj.edu/courses/71848/users/136481)
Jul 24, 2023
8/16/23, 11:02 PM Page 7 of 48
Reply
Beyonce,
Thank you for the awesome photos! You clearly did some thorough
research. i thought the malaria aspect of the disease was quite
interesting.
Best Wishes,
Brooke
(https://canvas.fscj.edu/courses/71848/users/106498)
Harun Vatres (https://canvas.fscj.edu/courses/71848/users/106498)
4:07pm
Hello Beyonce
I really enjoyed reading your discussion post, the photos you added
really give a better idea of what sickle cell disease is and how its
different from normal red blood cells.
(https://canvas.fscj.edu/courses/71848/users/102878)
Amira Betancourt (She/Her) (https://canvas.fscj.edu/courses/71848/users/102878)
Jul 7, 2023
8/16/23, 11:02 PM Page 8 of 48
Through my research findings, I found that Sickle Cell disease is an
illness that affects red blood cells. This disease is caused by a person
inheriting two defective hemoglobin genes, called hemoglobin S. The
effects of this disorder include anemia, swelling of joints, vision loss, and
frequent infections. The red blood cells are sticky and crescent-shaped,
which causes poor blood flow throughout the body. If asked if you could
physically see this illness in someone, the answer is yes. Pale skin and
swollen joints are common features and adolescent survivors often
experience delays in growth. One piece of information I found interesting
was that SCD survivors have a reduction in the number of malarial
parasites living inside the body. This means that they can fight off
Malaria easier.
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Brooklyn Rossi (https://canvas.fscj.edu/courses/71848/users/24335)
Jul 9, 2023
8/16/23, 11:02 PM Page 9 of 48
I found a very interesting article that dives deep into the current
theories surrounding in-depth analysis on malaria and sickle cell.
There is a higher risk of death in homozygous sickle cell then even
those without sickle cell. The most resistance to malaria has been
seen in heterozygous sickle cell. This makes it more complicated for
scientist to figure out what factor is causing the increased resistance.
I would like to see where future research takes us in regards to that.
Resistance to plasmodium falciparum in sickle cell trait ... - PNAS.
(n.d.). https://www.pnas.org/doi/10.1073/pnas.1804388115
(https://linkprotect.cudasvc.com/url?
a=https%3a%2f%2fwww.pnas.org%2fdoi%2f10.1073%2fpnas.18043881
15&c=E,1,bAn6lQA4nWkTJSFeRlRNDlTrDpwcivEjfdbfKPlsDTvmKdE3ediO
Wv5wLuK7ZvPIEyNu0_rMA57vknMeQu2tUEZa-
771nU9iPnto5zWW&typo=1)
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Jomer Ibarreta (https://canvas.fscj.edu/courses/71848/users/26650)
Jul 10, 2023
8/16/23, 11:02 PM Page 10 of 48
Reply
Thank you for the information, Amira!I found that Sickle cell disease
has an interesting side effect, as it also provides a natural protection
against malaria. The sickle shape of the red blood cells makes it
harder for the malaria parasite to attach to the cells, thereby
protecting the individual from the most severe forms of the disease.
Additionally, the sickle cell trait has been found to reduce the risk of
death due to malaria even among children in malaria-endemic
regions.
Reference:
"Sickle Cell Disease." Centers for Disease Control and Prevention,
Centers for Disease Control and Prevention, 15 Oct. 2018,
www.cdc.gov/ncbddd/sicklecell/facts.html.
(https://canvas.fscj.edu/courses/71848/users/137316)
Alexis Clements (https://canvas.fscj.edu/courses/71848/users/137316)
Jul 10, 2023
Hello Amira,
Thanks for your response to the discussion board. Great job with your
research and response. In addition I also wanted to respond to Jomer.
That is an interesting fact and I did not see that when conducting my
own research. I did not know having sickle provided natural protection
against malaria.
8/16/23, 11:02 PM Page 11 of 48
(https://canvas.fscj.edu/courses/71848/users/24335)
Brooklyn Rossi (https://canvas.fscj.edu/courses/71848/users/24335)
Jul 8, 2023
8/16/23, 11:02 PM Page 12 of 48
Sickle Cell anemia is a disease caused by mutations in the hemoglobin
gene. This mutation is in the 11 chromosomes. Hemoglobin is how we get
oxygen delivered throughout our body. The blood cells form a sticky,
sickle shape instead of the round, flexible platelets. The sickle cells don’t
hold oxygen as well and are more prone to clotting. Red blood cells that
can’t hold or carry oxygen as well also only live about 1/10 the time
normal red blood cells do contribute to the anemia. It causes pain,
swelling, infections, and several other symptoms throughout the body.
One aspect of sickle cell that can benefit a person with it is that malaria
has less of an effect on those with it. This occures because of the lack of
oxygen in the sickle cells makes it hard for the parasite to take hold. The
immune system can attack malaria. A person with sickle cell would have
some physical symptoms at times that we can see. Those traits are
present for many illnesses, though. Sickle cells are a phenotype only
visbible by viewing the affected persons blood.
How sickle cell protects against malaria. Understanding Animal
Research. (n.d.).
https://www.understandinganimalresearch.org.uk/news/how-sickle-cell-
protects-against-malaria-a-sticky-connection
Mayo Foundation for Medical Education and Research. (n.d.). Sickle cell
anemia. Mayo Clinic. https://www.mayoclinic.org/diseases-
conditions/sickle-cell-anemia/symptoms-causes/syc-20355876
(https://www.mayoclinic.org/diseases-conditions/sickle-cell-
anemia/symptoms-causes/syc-20355876)
U.S. National Library of Medicine. (n.d.). Home - books - NCBI. National
Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/books
8/16/23, 11:02 PM Page 13 of 48
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Bonni Haber (She/Her) (https://canvas.fscj.edu/courses/71848/users/107427)
Jul 9, 2023
Brooklyn, you mentioned this disease being a benefit against Malaria
which I too mentioned in my post and found to be the most
interesting research I came across. Not many realizing Malaria is still
such a dangerous disease affecting third world countries I thought
this was key information for the post! Great job!
(https://canvas.fscj.edu/courses/71848/users/148704)
Robin Patterson (https://canvas.fscj.edu/courses/71848/users/148704)
Jul 10, 2023
Hi Brooklyn,
I don't think I ever considered the effects of mutations to DNA until
this course. Down syndrome is visible, so I feel like most people know
what that is. For something like sickle cell many people have not even
heard of it unless they know someone with it. My friend's son has
sickle cell and it cause him severe pain and frequent trips to the
hospital. It is such a sad disease.
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Jomer Ibarreta
8/16/23, 11:02 PM Page 14 of 48
(https://canvas.fscj.edu/courses/71848/users/26650)
Jul 10, 2023
Great discussion, Brooklyn! I also found out that Sickle cell disease is
caused by a mutation in the hemoglobin gene located on the
eleventh chromosome. The mutated gene causes red blood cells to
become sickle-shaped, which affects their ability to pass through the
circulatory system, leading to anemia and other serious health
problems. The mutated gene is inherited from both parents, and if
only one parent has the mutated gene, the child will only be a carrier
of the disorder. Therefore, it is important for those who have close
relatives with sickle cell to get tested to determine their own risk.
(Chen, 2017)
Reference:
Chen, Kat. "Sickle Cell Disease." Healthline, Healthline Media, 25 Aug.
2017, www.healthline.com/health/sickle-cell-disease.
(https://canvas.fscj.edu/courses/71848/users/113155)
Cori Perry (https://canvas.fscj.edu/courses/71848/users/113155)
Jul 18, 2023
My youngest daughter is mixed, and she carries the gene. Her cousin
actually has sickle cell and has gone through many hospitalizations
and different doctors trying to manage. She is very blessed that she
has found a doctor that can actually manage the pain for her now.
8/16/23, 11:02 PM Page 15 of 48
Reply
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Bonni Haber (She/Her) (https://canvas.fscj.edu/courses/71848/users/107427)
Jul 9, 2023
8/16/23, 11:02 PM Page 16 of 48
Sickle cell anemia is an inherited blood disorder characterized by
episodes of pain, chronic hemolytic anemia, and severe infections. It is
the most common sickle cell disease in American and effects about 1 in
500 African Americans.
Sickle cell anemia is caused by a point mutation in the hemoglobin beta
(HBB) gene on chromosome 11. This mutation causes an atypical form of
hemoglobin which causes red blood cells (RBC) to have their classic
“sickle” shape and also become hard and sticky. These cells also tend to
have a shorter lifespan.
All of the characteristics listed above cause the cells to get stuck in
smaller blood vessels and therefore obstruct the flow of blood. This can
become very painful but also can have more severe complications such
as stroke and infection. People with SCA tend to have more frequent
hospital visits then people without SCA and have a shorter life
expectancy.
As terrible of a disease as SCA is there is one trait it has that can offer a
survival advantage. It has been found that it offers an advantage against
malaria that is caused by the Plasmodium parasite. It is believed that the
sickle hemoglobin might get in the way of the Plasmodium parasite that
infects the RBC’s. Thus greatly reducing the amount of parasites that
infect the host.
I don’t think that SCA has such physical characteristics that you would
be able to just walk by someone and identify them as having SCA like you
would with someone that has Down’s Syndrome. However, there are some
common traits that people with SCA have. It is common for them to have
swollen joints and can be skinner and shorter. Also during a flare you
could notice some paleness. Since this is a more common disease for
African Americans you would look for this in oral mucosa and nail beds.
8/16/23, 11:02 PM Page 17 of 48
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Robin Patterson (https://canvas.fscj.edu/courses/71848/users/148704)
Jul 10, 2023
Hi Bonnie,
I have a friend that I grew up with and she has 3 sons. Her middle
son has sickle cell and is in the hospital often with severe pain. If you
did not know he had it, you would not be able to tell by looking at
him. I did not realize until this assignment that it affects so many
people.
(https://canvas.fscj.edu/courses/71848/users/54253)
Corbin Miller (https://canvas.fscj.edu/courses/71848/users/54253)
Jul 10, 2023
Bonni,
Good job going in depth with the advantage of this disease as one
who may have it might not know that there is an advantage to them
having it. Also good adding the reasoning behind the name of this
genetic disorder.
Great discussion!
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Heidi Street (She/Her) (https://canvas.fscj.edu/courses/71848/users/136481)
8/16/23, 11:02 PM Page 18 of 48
Reply
Jul 24, 2023
Bonnie,
I agree that generally people are not going to recognize an individual
with SCD by their appearance. The effects of the disease can align
with so many other disorders and illnesses.
Best wishes,
Brooke
(https://canvas.fscj.edu/courses/71848/users/106498)
Harun Vatres (https://canvas.fscj.edu/courses/71848/users/106498)
4:15pm
Hello Bonnie
I found your post very informative. I did not know that the disease
could be used as such an advantage to fight off malaria. Very good
job !
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Robin Patterson (https://canvas.fscj.edu/courses/71848/users/148704)
8/16/23, 11:02 PM Page 19 of 48
Jul 9, 2023
Sickle Cell anemia is a blood disorder caused by mutations in the
hemoglobin gene in chromosome 11. It causes pain, anemia, severe
infections and can lead to more additional complications such as
strokes. Hemoglobin is how we get oxygen delivered within our body. The
blood cells are sickle shaped instead of the round. The sickle cells
cannot hold oxygen, thus are more prone to clotting and usually have a
shorter lifespan. People with sickle cell have frequent hospital visits when
an episode flares. It affects the African Americas population in about 1 in
every 500. It can also account for a shorter life expectancy.
One good side to sickle cell is that they have components that may help
with malaria. It is believed that it can block or get in the way of the
plasmodium parasite that causes malaria.
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Ashley Burris (https://canvas.fscj.edu/courses/71848/users/142506)
Jul 10, 2023
Edited by Ashley Burris (https://canvas.fscj.edu/courses/71848/users/142506) on Jul 10 at 11:04pm
Hi Robin!
"The sickle cells cannot hold oxygen, thus are more prone to clotting
and usually have a shorter lifespan." This makes a lot of sense, I was
unaware of this information. Fun fact, an important factor in clotting
is fibrin which is a sticky protein. When activated it forms a mesh to
hold the platelets in place, which forms the clot.
8/16/23, 11:02 PM Page 20 of 48
Reply
(https://canvas.fscj.edu/courses/71848/users/54253)
Corbin Miller (https://canvas.fscj.edu/courses/71848/users/54253)
Jul 10, 2023
Sickle cell disease is a genetic disorder that causes mutations in red
protein that helps with the transportation of oxygen in the blood. this
mutation causes red blood cells to turn hard, sticky, and have the form of
a "C". The shape is where the name is derived from as it resembles an
old farm tool called a "Sickle". This change in red blood cells means that
they have trouble traveling through smaller blood vessels, possibly
getting stuck and causing a clog in the blood flow. Someone who may
have this genetic disorder may experience pain, infections, acute chest
syndrome and even a stroke (CDC, 2023). This genetic disorder has a
plus side to it though, one who has this genetic disorder has a good
resistance from a falciparum malaria, run a lower parasite count, and is
less likely to die from these outside effects (Serjeant, 2013). Through
studies one physical factor that is common with sickle cell disease is
Jaundice. Jaundice physical attributes is the yellowing of ones skin. This
is caused as the sickle cells die out faster than the liver can filter them
out causing the build up of bilirubin, which is the reason behind the
yellow color (Hopkins medicine, 2019).
Centers for Disease Control and Prevention. (2023, July 6). What is sickle
cell disease?. Centers for Disease Control and Prevention.
https://www.cdc.gov/ncbddd/sicklecell/facts.html#:~:text=The%20
sickle%20cells%20die%20early,acute%20chest%20syndrome%20
and%20stroke
8/16/23, 11:02 PM Page 21 of 48
and%20stroke
(https://www.cdc.gov/ncbddd/sicklecell/facts.html#:~:text=The%20sickle%
20cells%20die%20early,acute%20chest%20syndrome%20and%20stroke) .
Serjeant, G. R. (2013, October 1). The natural history of sickle cell disease.
Cold Spring Harbor perspectives in medicine.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784812/
Sickle cell disease. JHM. (2019, November 19).
https://www.hopkinsmedicine.org/health/conditions-and-diseases/sickle-
cell-disease
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Eliana Curry (https://canvas.fscj.edu/courses/71848/users/148561)
Jul 10, 2023
I really like how you explained why some sickle cells have a yellow
color.
I also wanted to add that jaundice in individuals with sickle cell
disease can occur as a result of a condition called acute splenic
sequestration. This is a life-threatening complication of sickle cell
disease where a large amount of blood becomes trapped in the
spleen.
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Eliana Curry (https://canvas.fscj.edu/courses/71848/users/148561)
Jul 10, 2023
8/16/23, 11:02 PM Page 22 of 48
Reply
Source: https://together.stjude.org/en-us/patient-education-
resources/diseases-conditions/acute-splenic-sequestration-and-
sickle-cell-
disease.html#:~:text=Spleen%20enlargement%2C%20also%20know
n%20as,caused%20by%20sickle%20cell%20disease.
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Cori Perry (https://canvas.fscj.edu/courses/71848/users/113155)
Jul 18, 2023
I never knew about the jaundice in individuals with sickle cell being a
thing. That is very interesting and perhaps why some with the disease
seem more light skinned than others in the family.
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Eliana Curry (https://canvas.fscj.edu/courses/71848/users/148561)
Jul 10, 2023
8/16/23, 11:02 PM Page 23 of 48
Sickle cell disease is caused by a specific type of mutation called a point
mutation. This mutation affects the gene that codes for the beta chain of
hemoglobin, resulting in the production of abnormal hemoglobin
molecules.
Sickle cell disease affects individuals in several ways. The abnormal
hemoglobin molecules cause red blood cells to become misshapen and
rigid, leading to a variety of symptoms including chronic anemia, pain
crises, organ damage, and an increased risk of infections. These
symptoms can vary in severity from person to person.
There are some aspects of sickle cell disease that could be beneficial to
individuals. People who are carriers for sickle cell trait (heterozygous for
the sickle cell gene) have a higher resistance to malaria. This is because
the abnormal hemoglobin in sickle cell disease interferes with the life
cycle of the malaria parasite, making it more difficult for the parasite to
survive and reproduce in red blood cells.
Sickle cell disease is a genetic disorder that can be diagnosed through
genetic testing. However, the phenotype (physical appearance) of an
individual with sickle cell disease is not always apparent just by looking
at them. Some individuals with sickle cell disease may have visible
symptoms such as jaundice (yellowing of the skin and eyes) or a swollen
spleen, but others may not have any visible signs of the disease. In order
to definitively diagnose sickle cell disease, a blood test is typically
required to measure the amount of abnormal hemoglobin in the blood.
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Tiara Taylor (https://canvas.fscj.edu/courses/71848/users/13719)
Jul 10, 2023
8/16/23, 11:02 PM Page 24 of 48
Reply
Hi Eliana,
I find it extremely understanding and easy to follow along while
reading your post. It is important that it's pushed for people who even
remotely have a history of some family members who have had the
sickle cell disease to have a test run to see if they do or do not have
it. As well as if they have any of the symptoms. Some reports state
that the sickle cell disease affects approximately 100,000
Americans. One symptom that I read that is associated with the
sickle cell disease that seems to be a common symptom among
other diseases was a fever. Nice post.
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Jomer Ibarreta (https://canvas.fscj.edu/courses/71848/users/26650)
Jul 10, 2023
Sickle cell disease is a genetic condition in which the red blood cells
have an odd shape, like a crescent. Sickle cell disease is caused by a
unique change in the hemoglobin protein. In the sixth position of the
beta-globin chain of the hemoglobin molecule, the amino acid glutamic
acid is used instead of the amino acid valine. Because of this mutation,
an abnormal hemoglobin molecule called hemoglobin S is made. When
red blood cells are exposed to low amounts of oxygen, they become stiff
and take on a sickle shape. This strange shape of the red blood cells
causes a number of problems, such as anemia, pain, and damage to
8/16/23, 11:02 PM Page 25 of 48
causes a number of problems, such as anemia, pain, and damage to
organs. This trait changes hemoglobin, the protein in red blood cells that
carries oxygen to the different parts of the body. People with this
mutation have trouble with their red blood cells, which get "sickled" and
can't move around the body easily. This can cause anemia, damage to
organs, and other major health problems. Sickle cell mutation can be
treated with blood transfusions, medicines, or stem cell transfers. Many
people with sickle cell trait can live long, healthy lives with the right care
and attention. It has been found that sickle cell disease helps in places
where malaria is common. Studies have shown that people with SCD are
less likely to get malaria, and if they do, their symptoms are usually less
severe because of the way their red blood cells are shaped. This is
because the sickle form of red blood cells makes it hard for malaria
parasites to enter red blood cells, which protects against malaria. People
with SCD also have a DNA mutation that makes them more resistant to
other diseases. Even though you can't tell if someone has the disease by
looking at them, the severity of the disease can change from person to
person. Depending on the person's genotype, the way the disease shows
up in the person's body can be mild or serious. Some of the symptoms
are anemia, tiredness, jaundice, painful episodes, damage to organs, and
even a stroke.
References:
“Sickle Cell Disease.” Centers for Disease Control and Prevention,
Centers for Disease Control and Prevention, 30 Aug. 2018,
www.cdc.gov/ncbddd/sicklecell/treatment.html
(http://www.cdc.gov/ncbddd/sicklecell/treatment.html) .
Sickle Cell Disease”. Mayo Clinic, Mayo Foundation for Medical
Education and Research, 8 Jan. 2021, www.mayoclinic.org/diseases-
conditions/sickle-cell-disease/symptoms-causes/syc-20355876
(http://www.mayoclinic.org/diseases-conditions/sickle-cell-
disease/symptoms-causes/syc-20355876) .
8/16/23, 11:02 PM Page 26 of 48
disease/symptoms-causes/syc-20355876) .
"Sickle Cell Disease." National Heart, Lung, and Blood Institute, U.S.
Department of Health and Human Services, www.nhlbi.nih.gov/health-
topics/sickle-cell-disease.
(https://canvas.fscj.edu/courses/71848/users/13719)
Tiara Taylor (https://canvas.fscj.edu/courses/71848/users/13719)
Jul 10, 2023
Hi Jomer,
I like how you went into telling us about the sickle cell disease and
then mentioning that people with the sickle cell trait can live a long,
healthy life with the right care and attention. I read where if they can
find the right medical attention, go for regular check ups, and learn
some healthy habits that will allow them to live a somewhat normal
life. Hand washing was of course one of the major ways to help try
and prevent a trigger for it. as well as thoroughly washing cutting
boards, foods, counter tops and utensils your using as well. Great
post and great flow for explaining everything.
(https://canvas.fscj.edu/courses/71848/users/80508)
David Rich (https://canvas.fscj.edu/courses/71848/users/80508)
Jul 19, 2023
8/16/23, 11:02 PM Page 27 of 48
Reply
Jomer;
LIke Tiara, I also like that you went into detail about care and
treatment for people with the sickle cell trait. It provides hope for a
rather gloomy subject.
(https://canvas.fscj.edu/courses/71848/users/13719)Tiara Taylor (https://canvas.fscj.edu/courses/71848/users/13719)
Jul 10, 2023
8/16/23, 11:02 PM Page 28 of 48
While the exact number of how many people have or are born with sickle
cell is unknown, the sickle cell disease is a genetic disorder caused by a
specific type of mutation in the hemoglobin gene. The mutation
responsible for sickle cell disease involves a single nucleotide
substitution in the gene that codes for the beta-globin subunit of
hemoglobin. Some ways this disease can affect people with this genetic
disorder would be by acute chest syndrome, stroke, kidney disease, and
spleen damage to name a few.
An aspect of sickle cell disease that could be of benefit to a person in
any way would be that people with the sickle cell trait are protected from
malaria, a serious mosquito-borne disease. This is due to the sickle-
shaped red blood cells being less likely to be infected with the malaria
parasite.
No, you cannot look at a person and see that they have sickle cell
disease. However, there are some physical signs that may be associated
with sickle cell disease, such as: jaundice, delayed growth and
development, and during a sickle cell crisis or under conditions of low
oxygen, the skin of affected individuals may appear pale or yellowish.
Diagnosis of sickle cell disease relies on laboratory tests that examine
the presence of abnormal hemoglobin and genetic testing to confirm the
presence of the specific mutation.
https://www.cdc.gov/ncbddd/sicklecell/data.html
(https://www.cdc.gov/ncbddd/sicklecell/data.html)
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Reply
Brianna Neeley (https://canvas.fscj.edu/courses/71848/users/139670)
Jul 15, 2023
Great post Tiara! A quick tip also is that ones with Sickle Cell should
avoid alcohol and smoking – alcohol can cause you to become
dehydrated and smoking can trigger a serious lung condition called
acute chest syndrome. Stress can also trigger a sickle cell crisis.
(https://canvas.fscj.edu/courses/71848/users/137316)
Alexis Clements (https://canvas.fscj.edu/courses/71848/users/137316)
Jul 10, 2023
8/16/23, 11:02 PM Page 30 of 48
Sickle cell disease is a condition that affects the red blood cells.
Normally, blood contains round-shaped red blood cells that can easily
flow through our body. However, in sickle cell disease, the red blood cells
are shaped like crescent moons, which hinders their ability to deliver
oxygen to different parts of our body. This disease commonly presents
symptoms such as pain, fatigue, shortness of breath, and sometimes
frequent infections. Sickle cell disease is usually inherited from both
parents. It’s important to understand that we cannot determine if
someone has sickle cell disease just by looking at them. The disease is
caused by a mutation in both copies of a person’s HBB gene, which
produces a component of hemoglobin, the protein responsible for
carrying oxygen in red blood cells. This mutation leads to the formation
of sickle-shaped red blood cells due to the sticking together of
hemoglobin molecules. An interesting aspect of sickle cell disease is that
it provides increased resistance to malaria, offering some protection
against this infectious disease.
https://www.ncbi.nlm.nih.gov/books/NBK22238/#:~:text=SCA%20is%20a
n%20autosomal%20recessive,HBB)%20found%20on%20chromosome
%2011p15.
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Claudia Pena (https://canvas.fscj.edu/courses/71848/users/70051)
Jul 16, 2023
8/16/23, 11:02 PM Page 31 of 48
Reply
Hello Alexis,
I agree with you it is interesting the discovery of that individuals who
carries the sickle cell disease are resistant offering protection
against Malaria disease, which is a severe infection disease caused
by mosquitos that it can be mortal. Thank you for sharing.
Claudia.
(https://canvas.fscj.edu/courses/71848/users/142506)
Ashley Burris (https://canvas.fscj.edu/courses/71848/users/142506)
Jul 10, 2023
8/16/23, 11:02 PM Page 32 of 48
Reply
Sickle Cell Disease is a genetic disorder caused by the mutation in both
copies of a person's Hemoglobin gene. The mutation causes hemoglobin
molecules to stick together, creating sickle-shaped red blood cells. This
disorder is inherited and can cause anemia, and organ damage, can
force the blood cells to rupture, and in extreme cases can force an early
death. The benefit of this genetic disorder is it can aid in the survival
against Malaria. Malaria is mostly found in Africa South of the Sahara
and in parts of Oceania such as Papua and New Guinea. Sickle cell is
also ironically most common among those who have ancestors from Sub-
Saharan Africa. Sickle cell can present itself by jaundice, stroke, and
severe pain which can all be seen by the naked eye. I do not see these
visual traits as an isolated incident that would clearly state that someone
how sickle cell, however, I feel that all of these components combined
could lead to that assumption.
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Brianna Neeley (https://canvas.fscj.edu/courses/71848/users/139670)
Jul 15, 2023
Great post Ashley! Due to the shape of the sickle cells they are less
likely to be infected with Malaria by mosquitoes.
8/16/23, 11:02 PM Page 33 of 48
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Brianna Neeley (https://canvas.fscj.edu/courses/71848/users/139670)
Jul 15, 2023
What type of mutation causes this disease?
This genetic disorder is caused by a mutation in both copies of a
person's HBB gene. This gene encodes a component of hemoglobin, the
oxygen-carrying protein in red blood cells. The mutation causes
hemoglobin molecules to stick together, creating sickle-shaped red
blood cells.
How does this disease affect persons with this genetic
disorder?
Anemia. Sickle cells break apart easily and die.
Episodes of pain. Periodic episodes of extreme pain, called pain crises,
are a major symptom of sickle cell anemia.
Swelling of hands and feet
Frequent infections
Delayed growth or puberty
Vision problems.
Are there aspects of sickle cell disease that could be of benefit
a person in any way?
You are less prone to catching Malaria
Can you look at a person and see this phenotype? Explain.
No. You require a blood test to be able to tell if you have Sickle Cell.
8/16/23, 11:02 PM Page 34 of 48
Reply
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Claudia Pena (https://canvas.fscj.edu/courses/71848/users/70051)
Jul 16, 2023
Hello Briana,
I like the outline of your post, is well organized. In addition, from my
research I found out that some of the pain crises can be caused by
weather change, for instance if a day was sunny and the next one was
raining it can affect individuals with sickle cell disease by be
susceptible to have a pain crisis. Thank you for sharing.
Claudia
(https://canvas.fscj.edu/courses/71848/users/70051)
Claudia Pena (https://canvas.fscj.edu/courses/71848/users/70051)
Jul 16, 2023
8/16/23, 11:02 PM Page 35 of 48
Sickle cell is an inherited blood disorder that is characterized by flawed
hemoglobin, which is the protein in red blood cells that carries oxygen to
the tissues of the body; therefore, this disease interferes with the delivery
of oxygen to the tissue, and it is caused by specific type of genetic
mutation that involves the substitution of adenine(A) for thymine(T). In
addition, sickle cell disease affects individuals by caused chronic health
problems such as pain crises, anemia, organ damage, infections, delayed
growth and development, complication during pregnancy, vision
problems, acute chest syndrome, and stroke. In the United States, sickle
cell anemia most commonly affects people of African, Mediterranean and
Middle Eastern descent.
On the other hand, it has been discovered that is one benefit of people
with sickle cell trait have a survival advantage against Malaria, which is a
mosquito-borne infectious disease caused by parasites that it can be
life-threatening. Because of the abnormal sickle shaped red blood cells
in people with sickle cell trait can avoid the growth and reproduction of
that parasite, reducing the malaria symptoms and providing some
protection against severe malaria.
Finally, it is not possible to determinate by visual inspection if a person
carries the sickle cell disease phenotype because this disease is a cell
mutation that affects the structure of red blood cells, which are not
visible at first stare.
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8/16/23, 11:02 PM Page 36 of 48
Reply
Zachary Hatten (https://canvas.fscj.edu/courses/71848/users/143345)
Monday
The effects on the body from this disease seem to manifest in very
visible weaknesses and frailties of the body. You can tell them by the
look of a sickly person struggling to hold up their own frame.
(https://canvas.fscj.edu/courses/71848/users/113155)Cori Perry (https://canvas.fscj.edu/courses/71848/users/113155)
Jul 18, 2023
Sickle cell is a red blood cell disorder that is passed down from your
parents the same way people get the color of their eyes, skin and hair.
There is no way to catch sickle cell, it is not contagious. My youngest
daughter actually carries the gene for sickle cell, yet she hasn’t
presented any symptoms. Having sickle cell trait doesn’t mean that you
have sickle cell disease. People with sickle cell trait have inherited a
sickle cell gene from one parent and a normal gene from the other
parent. In order to have sickle cell disease, a person must inherit two
sickle cell genes, one from each parent. A person who inherits the sickle
cell gene from only one parent is called a trait carrier. A trait carrier is
healthy but can pass the sickle gene to their children.
Healthy red blood cells are smooth, round, and bendable so they can
easily flow through blood vessels and carry oxygen to every part of the
body.
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Reply
body.
Sickle cell begins with hemoglobin, the part of the red blood cell that
carries oxygen. People with sickle cell have a special type of hemoglobin
that does not carry oxygen as well. After sickle hemoglobin releases
oxygen, it clumps together forming a stiff rod. This causes the red blood
cell to become sickled, or banana shaped.
Because sickled red blood cells break down, there are less and less in
the body to carry oxygen. When there are too few red blood cells carrying
oxygen, anemia can result which causes people to feel weak and tired.
Another symptom is pain. Sickle cell pain happens when sickled blood
cells get stuck in blood vessels. Because of their shape, stiffness, and
stickiness, sickled cells don’t slide past each other smoothly like round
red blood cells do. Instead, they can catch on each other and form
pileups. These pileups mean that your organs and tissues may not be
getting the oxygen that they need.
You can't look at a person and say, "They must have sickle cell". There are
no outward signs of this disease.
(https://canvas.fscj.edu/courses/71848/users/80508)David Rich (https://canvas.fscj.edu/courses/71848/users/80508)
Jul 19, 2023
Sickle cell disease is caused by a specific type of mutation in the gene
that codes for hemoglobin, a protein responsible for carrying oxygen in
red blood cells. The mutation responsible for sickle cell disease is a
point mutation, where a single nucleotide in the DNA sequence is
8/16/23, 11:02 PM Page 38 of 48
point mutation, where a single nucleotide in the DNA sequence is
changed. Specifically, it involves a substitution of one nucleotide base,
adenine (A), with thymine (T) in the gene that encodes the beta-globin
subunit of hemoglobin. This results in the substitution of the amino acid
glutamic acid with valine at the sixth position of the beta-globin chain,
leading to the production of abnormal hemoglobin called hemoglobin S
(HbS).
How does sickle cell disease affect individuals with this genetic
disorder? The presence of hemoglobin S (HbS) causes the red blood
cells to become deformed into a sickle shape under certain conditions,
such as low oxygen levels or dehydration. These sickle-shaped red blood
cells are less flexible and tend to get stuck in small blood vessels,
causing blockages and reducing oxygen delivery to various organs and
tissues. This results in a range of symptoms and complications,
including:
1. Pain Crises: Sudden and severe episodes of pain occur due to
blocked blood flow, particularly in the bones and joints.
2. Anemia: Sickle cells have a shorter lifespan than normal red blood
cells, leading to chronic anemia, which can cause fatigue and
weakness.
3. Organ Damage: Reduced oxygen supply to organs can lead to damage
in the spleen, kidneys, liver, and other organs.
4. Increased Infections: A damaged spleen increases the risk of
infections, particularly from encapsulated bacteria.
5. Stroke: Blockages in blood vessels can cause stroke, especially in
children with sickle cell disease.
Are there aspects of sickle cell disease that could be of benefit to a
person in any way? While sickle cell disease is a severe genetic disorder
with various health challenges, the presence of sickle cell trait (having
8/16/23, 11:02 PM Page 39 of 48
with various health challenges, the presence of sickle cell trait (having
one copy of the mutated gene and one normal gene) can provide some
protection against malaria. Individuals with sickle cell trait may have a
reduced risk of severe malaria compared to those with normal
hemoglobin. In regions where malaria is prevalent, such as parts of sub-
Saharan Africa, the sickle cell trait can confer a survival advantage
against malaria infection. However, it is essential to note that having
sickle cell trait is different from having sickle cell disease, and the latter
comes with significant health complications.
Can you look at a person and see this phenotype? Explain. In some
cases, individuals with sickle cell disease may display certain visible
physical characteristics, but it is not always apparent from their
appearance alone. The sickle cell phenotype refers to the observable
traits associated with the disease. Some of the features that might be
noticeable in some individuals include:
1. Pale or yellowish skin (due to anemia).
2. Swollen hands and feet (due to blocked blood flow).
3. Delayed growth or development in children.
4. Jaundice (yellowing of the skin and eyes) during a hemolytic crisis.
However, it's important to note that not all individuals with sickle cell
disease will exhibit these characteristics, and some symptoms might not
be immediately visible. Diagnosis is typically confirmed through
laboratory testing, specifically looking at the presence of abnormal
hemoglobin and the characteristic sickle-shaped red blood cells under a
microscope.
In summary, sickle cell disease is caused by a point mutation in the gene
that codes for hemoglobin, leading to the production of abnormal
hemoglobin S. This causes the characteristic sickle-shaped red blood
cells, leading to a range of symptoms and complications. While sickle cell
trait might provide some protection against malaria, sickle cell disease
8/16/23, 11:02 PM Page 40 of 48
Reply
itself is a severe genetic disorder with significant health challenges. The
phenotype of sickle cell disease is not always visually apparent, and a
proper diagnosis requires laboratory testing.
(https://canvas.fscj.edu/courses/71848/users/136481)
Heidi Street (She/Her) (https://canvas.fscj.edu/courses/71848/users/136481)
Jul 24, 2023
8/16/23, 11:02 PM Page 41 of 48
Reply
Sickle cell disease is caused by a point mutation in the gene that codes
for the beta-globin subunit of hemoglobin. This mutation leads to the
production of abnormal hemoglobin known as hemoglobin S (HbS), which
causes the red blood cells to take on a sickle shape under certain
conditions.
Individuals with sickle cell disease face various health challenges. The
sickle-shaped red blood cells are less flexible and can block small blood
vessels, leading to reduced blood flow and oxygen delivery to tissues.
This results in severe pain, fatigue, and complications such as organ
damage and increased susceptibility to infections. The lifespan of sickle
cells is also shorter than normal red blood cells which causes anemia.
In places where malaria is prevalent, individuals carrying one copy of the
sickle cell gene have a survival advantage over those with two normal
copies because the HbS in sickle cell trait carriers can interfere with the
development of the malaria parasite within red blood cells, reducing the
severity of the infection.
Generally you cannot look at a person and recognize sickle cell. Some
individuals with the disease may seem tired or ill but sickle-shaped red
blood cells can only be observed under a microscope.
(https://canvas.fscj.edu/courses/71848/users/137133)
Claudia Huerta (https://canvas.fscj.edu/courses/71848/users/137133)
Friday
8/16/23, 11:02 PM Page 42 of 48
Sickle cell disease is caused by a specific type of mutation known as a point mutation. More specifically, it is caused by a single nucleotide substitution in the gene that codes for the beta-globin chain of hemoglobin. This mutation results in the substitution of a glutamic acid residue with a valine residue at the sixth position of the beta-globin chain.
The presence of this mutation leads to the production of abnormal hemoglobin molecules, known as hemoglobin S (HbS). These abnormal hemoglobin molecules tend to form long, rigid structures, causing the red blood cells to adopt a sickle shape under certain conditions. The sickle- shaped red blood cells can become stuck in small blood vessels, leading to reduced blood flow and oxygen delivery to tissues. This can result in various symptoms and complications associated with sickle cell disease.
Individuals with sickle cell disease experience a wide range of symptoms, including chronic anemia, fatigue, pain crises (sudden and severe pain), susceptibility to infections, delayed growth and development in children, organ damage (such as damage to the spleen, kidneys, and lungs), stroke, and complications during pregnancy. The severity and specific manifestations of the disease can vary among individuals depending on factors such as the type of sickle cell mutation and the presence of other genetic modifiers.
While sickle cell disease is generally a debilitating condition, there is an interesting aspect related to its inheritance that can provide a selective advantage in certain circumstances. Sickle cell disease is caused by a recessive genetic trait, meaning that an individual needs to inherit two copies of the mutated gene (one from each parent) to develop the disease. However, individuals who inherit only one copy of the mutated gene (known as sickle cell trait carriers) exhibit increased resistance to malaria. The presence of sickle-shaped red blood cells in carriers can make it difficult for the malaria-causing parasites to invade and replicate within the cells, providing some protection against the disease. As a result, in regions where
8/16/23, 11:02 PM Page 43 of 48
providing some protection against the disease. As a result, in regions where malaria is prevalent, the sickle cell trait can confer a survival advantage and be more common in the population.
In terms of phenotype, the sickle cell disease can manifest in various ways. One of the most recognizable features is the sickle-shaped red blood cells, which can be observed under a microscope. However, it's important to note that not all individuals with sickle cell disease consistently have sickle- shaped red blood cells, as this can vary depending on the conditions and factors influencing red blood cell shape. Other symptoms and complications associated with sickle cell disease, such as anemia and organ damage, may not be visibly apparent upon observation unless further tests are conducted.
In summary, sickle cell disease is caused by a specific point mutation in the beta-globin gene, leading to the production of abnormal hemoglobin. This disease affects individuals in various ways, causing symptoms and complications related to reduced oxygen delivery and blood flow. While sickle cell disease is generally detrimental to health, the presence of sickle cell trait carriers in populations with malaria can provide some protection against the disease, illustrating a potential benefit of the mutation in certain contexts. The phenotype of sickle cell disease includes sickle-shaped red blood cells, but other manifestations may not be visibly apparent without further examination.
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Zachary Hatten (https://canvas.fscj.edu/courses/71848/users/143345)
Monday
8/16/23, 11:02 PM Page 44 of 48
Reply
Reply
Your response was clearly grounded in research whereas mine was
from firsthand observation. There is a lot more involved with this
disease than I would have guessed. Humans should be a lot more
conscientious about their choice of partner to create life with.
(https://canvas.fscj.edu/courses/71848/users/143345)
Zachary Hatten (https://canvas.fscj.edu/courses/71848/users/143345)
Monday
Perhaps it's cheating but I have known someone with Sickle Cell anemia
for a long time and he definitely has a certain look about him that makes
it pretty obvious what he has and it's made it far easier for me to notice
other people who likely have it. It comes with weakness, poor breathing,
low stamina, very pale skin and no sign of strong blood flow or redness at
all. Teeth in poor condition and very weak, scraggly hair. It almost would
look like someone suffering from radiation sickness and I certainly can't
think of any benefits he had ever claimed to experience from it so it
would be hard for me to come up with any examples of that. Maybe if his
parents had been selective in their mates he wouldn't have to bear such
a curse.
8/16/23, 11:02 PM Page 45 of 48
(https://canvas.fscj.edu/courses/71848/users/106498)
Harun Vatres (https://canvas.fscj.edu/courses/71848/users/106498)
4:05pm
8/16/23, 11:02 PM Page 46 of 48
Sickle cell disease is caused by a specific type of genetic mutation
known as a point mutation. Specifically, it is caused by a single
nucleotide substitution in the gene that codes for hemoglobin, the
protein responsible for transporting oxygen in red blood cells. This
mutation leads to the replacement of a glutamic acid residue with a
valine residue in the beta-globin chain of hemoglobin, resulting in the
formation of abnormal hemoglobin called hemoglobin S (HbS).
Individuals with sickle cell disease have red blood cells that contain a
significant amount of hemoglobin S. These abnormal hemoglobin
molecules can polymerize under conditions of low oxygen, causing the
red blood cells to become rigid and assume a sickle shape. This can lead
to various complications, including:
1. Anemia: The altered shape of red blood cells makes them fragile and
prone to destruction, leading to anemia, which can cause fatigue,
weakness, and other symptoms.
2. Organ Damage: Repeated vaso-occlusive crises can lead to damage
in various organs, including the spleen, liver, kidneys, and lungs.
3. Stroke: Blockage of blood vessels can lead to reduced blood flow to
the brain, increasing the risk of stroke, especially in children
Phenotype and visible signs: The sickle cell disease phenotype is not
immediately visible in most cases. A person's appearance is not typically
altered by the condition. However, the symptoms and complications of
sickle cell disease can manifest over time and may not be externally
visible. In some instances, a person experiencing a vaso-occlusive crisis
or other complications may show signs of discomfort or pain, but these
signs are not specific to sickle cell disease and may result from various
other causes as well.
8/16/23, 11:02 PM Page 47 of 48
Reply
8/16/23, 11:02 PM Page 48 of 48
