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Dr. Stephens informs Mr. and Mrs. Stamos that Nikoleta has beta thalassemia major, also known as Cooley's anemia. This is a genetic blood disorder where the beta proteins in hemoglobin do not function correctly, preventing red blood cells from carrying oxygen properly. Dr. Stephens refers Nikoleta to a specialist hematologist, Dr. Williams, who can provide the best care for her condition. Due to the serious nature of beta thalassemia major and high mortality rates, Dr. Stephens recommends the parents see a genetic counselor before having more children to understand inheritance risks.

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0% found this document useful (0 votes)
145 views

04.02 Assignment Finished

Dr. Stephens informs Mr. and Mrs. Stamos that Nikoleta has beta thalassemia major, also known as Cooley's anemia. This is a genetic blood disorder where the beta proteins in hemoglobin do not function correctly, preventing red blood cells from carrying oxygen properly. Dr. Stephens refers Nikoleta to a specialist hematologist, Dr. Williams, who can provide the best care for her condition. Due to the serious nature of beta thalassemia major and high mortality rates, Dr. Stephens recommends the parents see a genetic counselor before having more children to understand inheritance risks.

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jazzmine andeson
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04.

02 Components of Blood (40 Points)

INSTRUCTIONS

Blood Disorder Case Study

For this assessment, you will read and analyze a case study on a patient with a blood disorder. There may be some
medical terms or procedures in the case study that you do not know or understand. Please use reliable internet
resources to do whatever research is necessary to define terms and get additional information on mdiseases and
symptoms mentioned in the case study. However, make sure your answers are in your own words and are
supported by specific evidence from the text.

Case Study

It’s All Greek to Me: Physiology Edition

By
Leslie Gale Wooten-Blanks
Department of Biology
Claflin University, South Carolina

Part I – Something’s Not Right

Dr. James Stephens is a pediatrician serving the Tarpon Springs, Florida, area who is seeing one of
his new patients in the clinic today. As Dr. Stephens enters the examination room, he says “kali mera”
to Stephania and Nikolaus Stamos, a greeting he uses with a number of his patients who are Greek
Americans. Mr. and Mrs. Stamos have brought in their only child, beautiful little Nikoleta. It seems odd
to Dr. Stephens that they are here because Nikoleta’s one-year checkup is only six weeks away.
Nikoleta’s parents are very concerned and tell the doctor that the baby has been acting strangely.
The father, Nikolaus, is a personal trainer and he suspects that Nikoleta has been anemic for some
reason.

Originally, Nikoleta had been on a low iron formula because she was experiencing gastrointestinal
distress. The parents changed her formula to a high iron formula to see if it would help alleviate her
symptoms, but Nikolaus tells Dr. Stephens that it did not. His daughter continues to suffer from
general malaise and lethargy, and her skin looks a little pale recently. Nikoleta’s parents also tell the
doctor that their daughter looks bloated all the time, and seems tired and cranky.

Dr. Stephens notices that Nikoleta’s belly appears to be swollen. Stephania mentions that she too
noticed that about a month ago, but thought it was either gas or that the baby was gaining weight.

Nikoleta’s chart reveals that Nikoleta was in the 50th percentile for both weight and length at the time
of her birth (7lb 8oz; 20 inches). She is current with all of her vaccinations. Both parents appear
attentive and involved in her care. Mr. Stamos is average height and build while Mrs. Stamos appears
to be of small stature but within normal range. Dr. Stephens’ assistant, Rebecca, has Nikoleta’s vital
signs as follows: length 28 inches, weight 19lb 2oz, temperature 98.6. That puts Nikoleta in the 10th
percentile for both length and weight. Dr. Stephens also makes a note of the fact that her head
circumference seems relatively large.

Dr. Stephens advises the parents to switch Nikoleta back to her original formula and orders a CBC
(Complete Blood Count) panel. Then, almost as an afterthought, he decides to order a radiograph of
the skull. “Something just doesn’t look right about her head,” he says to himself.

★ Answer the questions below.

1. What does it mean that Nikoleta is in the 10th percentile for length and weight? Is that a desirable
statistic if she was in the 50th percentile at birth? (4 Points) (Hint: Here’s a crash course in
percentiles.) She is in the 10th percentile for length and weight is that 90% of her age weight and
have a greater length then her, and only 10%. There is not a desirable statistic if she was in the 50th
percentile.

2. What symptoms of anemia was Nikoleta showing? (4 Points) The baby's skin was paler than usual
when the doctor entered the room, and her stomach had enlarged, and her parents reported that she
was tired and grumpy all of the time.

3. Why did the parents change Nikoleta’s formula to a high iron baby formula? (2 Points) Because
she was having gastrointestinal problems while on the low iron formula, her parents switched her to a
high iron baby formula to see if that would relieve her symptoms. This modification to her recipe had
no effect.

Part II – The Test Results

Dr. Stephens receives the lab reports and decides to refer Nikoleta to a hematologist. The results are
as follows:

Mr. and Mrs. Stamos bring little Nikoleta into the hematologist’s office and Nikoleta has her blood
drawn. After a few minutes, the hematologist returns to speak with the parents. Even with just a few
moments looking at the sample, he knows that there is something wrong. The hematologist reports
that he observed severe hypochromia and microcytosis (lightly colored and small cells), fragmented
and nucleated RBCs.

The blood sample taken in the office appears as follows:


The hematologist meets with the Stamos family in the exam room. “Mr. and Mrs. Stamos, there are
some things that do not look normal in Nikoleta’s blood. I am not sure of the cause, but I do know that
Nikoleta’s red blood cells aren’t shaped correctly and they are not the right color. The red blood cells
should be very red under the microscope and her red blood cells are light pink.”

Mrs. Stamos asks, “Does it matter if her red blood cells aren’t red?”

The hematologist replies, “Yes, it does matter. Healthy red blood cells are very red and carry oxygen.
Nikoleta’s red blood cells aren’t able to carry much oxygen to her tissues. I have an additional
concern as well. Sometimes disorders like anemia can have a genetic basis. I would like to have both
of you to give a sample of blood for a complete blood count.”

The findings from both parents are mild hypochromia and macrocytic (lightly colored and large cells)
anemia. The hematologist gives a diagnosis of beta thalassemia intermedia (beta thalassemia is also
known as erythroblastic anemia) for both Mr. and Mrs. Stamos.

★ Answer the questions below.

4. What are the functions of each component in a normal blood sample? (5 Points) (Hint: See lesson
page 3.) White blood cells fight of germs while red blood cells carry oxygen.

5. Look at the chart of Nikoleta’s results. Which values are normal and which are not? (4 Points)
They appear to be normal, but some are weirdly shaped and have unusual coloring. Red blood cells
have a circular shape and are red in color.

6. Why was an analysis of Mr. and Mrs. Stamos’ blood ordered? (4 Points)They wanted to see if her
blood cell abnormalities were inherited.

7. Would a picture of Mr. Stamos’ red blood cells look like Nikoleta’s? Why or why not? (2 Points)
Because it's inherited, both of them will have abnormal blood cells.

8. What is beta-thalassemia (also known as erythroblastic anemia)? (4 Points) (Hint: Check out this
article.) An inherited blood disorder from the parents

Dr. Stephens receives a full report from the hematologist and digital images of Nikoleta’s skull.

Part III – The Family Returns

Dr. Stephens calls Mr. and Mrs. Stamos and asks that they come in for a follow-up visit. This time the
parents meet with Dr. Stephens in his office, not in the exam room. After they are seated, Dr.
Stephens informs them that Nikoleta’s condition is very serious.

“I am sorry to give you bad news. Nikoleta does have anemia but, unfortunately, giving her a high iron
formula was exactly the opposite of what should be done. A patient with Cooley’s anemia actually
suffers from iron overload. Nikoleta’s disorder has a genetic basis.”

“But neither one of us has any of the problems Nikoleta has. We aren’t tired all the time. We work out
every day,” replies Mr. Stamos.

“That’s a very good thing, and it has probably helped to keep you and your wife healthy. You both
have a much milder form of anemia. Unfortunately, Nikoleta’s condition is more severe. Nikoleta has
what is known as beta thalassemia major, which is also called Cooley’s anemia. Do you remember
when I spoke with you about hemoglobin and how it functions to carry oxygen? Hemoglobin is a
protein in red blood cells. It’s made up of four subunits, and within each of these subunits is a heme
group. A heme group is an iron-containing ring structure that can bind to oxygen. Each hemoglobin
protein can bind to four oxygen molecules - one oxygen molecule for each heme group. Furthermore,
there are two types of hemoglobin proteins involved in the process of carrying oxygen, alpha and
beta. You need both of them in order to have properly working hemoglobin. Nikoleta’s beta proteins
don’t function correctly.”

★ Answer the questions below.

9. What are the general features of beta-thalassemia major (Cooley’s anemia), and what are some
physical symptoms? (5 Points) (Hint: Again, check out this article.)
Hemoglobin is deficient in protein. They're the same since she has anemia based on all of her
symptoms.

10. What is the structure of hemoglobin and how is oxygen bound to it? (2 Points) Hemoglobin
structure has
erythrocytes and there made up of four sub units, two beta sub units and 2 two alpha sub units.
These each have a central heme group that has iron and binds to one oxygen molecule

Part IV – The Doctor Continues

Dr. Stephens continues, “I have spoken to Dr. Jeff Williams, a hematologist who specializes in
childhood disorders of the blood. Nikoleta’s condition is very grave and it has a high mortality rate.
Her life span may be significantly shortened. Many individuals do not live beyond adolescence and
throughout their lives, they endure blood transfusions on a regular basis. Dr. Williams is the best
specialist in this area and I believe he will give her the best care possible. He will keep me informed
of Nikoleta’s progress. Meanwhile, Nikoleta will still need to see me for her regular checkups. Also, I
don’t know what you are considering for the future of your family, but because of these findings, I
suggest that you see a genetic counselor before deciding to have another baby. A genetic counselor
will give you all the information about how beta thalassemia is transmitted from parent to child so that
you can make an informed decision about having more children naturally. You should know that any
children born to the two of you would have a 25% chance of having beta thalassemia major (Cooley’s
anemia).”

★ Answer the question below.

11. If you were the genetic counselor, what advice would you give Mr. and Mrs. Stamos concerning
having more children? Why? (4 Points)
If I were a genetic counsler I would inform both Mr. and Mrs.Stamos of the chance of danger having
more children could cause because beta thalassemia is a life threatening disorder that could put the
nfuture child at risk.

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