Session covering a Case study on Thalassemia

1. Session 4:
Case
study 2

2. Learning objectives
 Recap on the content we learned in session 1 about
haemoglobin and the transport of oxygen
 Get into groups and discuss a new case study using the
worksheet!
 Upload your answers on the padlet
 Discuss the diagnosis, physiological mechanisms and
potential treatments

3. Let's recap
Red blood cells
DEFINITION What are red blood cells?
Red blood cells are specific cells in the blood
that contain haemoglobin.
• Function: transport haemoglobin around the
body
Normal red blood cell count
• Men: 4.0 - 5.9 million in 1 liter of blood
• Women: 3.8 - 5.2 million in 1 liter of blood

4. Abnormal red blood cell count
Low red blood cell count:
• Iron deficiency anaemia (tiredness, delayed growth, weak and fragile bones)
• Vitamin B6, B12 or folate deficiency (tiredness, delayed growth, weak and fragile
bones)
• Internal bleeding, kidney disease, malnutrition
High red blood cells count:
• Smoking
• Dehydration
• Congenital heart disease
• Low blood oxygen
• Pulmonary fibrosis

5. Haemoglobin
DEFINITION What is haemoglobin?
Hemoglobin is a protein
that carriers oxygen in the blood.
• 4 chains that contain each a haem
group and an iron ion
• One haemoglobin can carry 4
molecule of oxygen

6. Oxygen
transport
• At high oxygen concentration
in the lungs: oxygen
binds to haemoglobin in red
blood cells and
forms oxyhaemoglobin.
• At low oxygen concentration
in the
organs: oxyhaemoglobin turns in
to haemoglobin.

7. Patient X
Presents at his GP:
• 6 months old child
Symptoms:
• Severe tiredness and weakness
Physical examination:
• Heart fluttering with irregular
heartbeats (palpitations)
• Pallor and jaundice skin
• Delayed growth and development

8. Results:
Full blood
count
 Red blood cell count: 3.6 million
per liter of blood
 Platelet count: 357,198 per
microliter (normal range: 150,000
to 450,000 per microliter)
 White blood cells: 7,546 per
microliter of blood (normal range:
5,000-10,000 microliter of blood)

9. In your groups answers questions
on the padlet:
https://padlet.com/ed19kc21/case-study-2-zguk811xsd7d9zpx

10. What is the normal range of the
RBC ? Is the patients' RBC within
this normal range?
No, the patients' RBC isn't within the normal range as the
results showed the patients' RBC was 3.6 million per litre of
blood
 For men: normal range is 4.0-5.9 million per litre of
blood
 For women: normal range is 3.8-5.2 million per litre of
blood

11. What is the normal range for
platelet count and white blood
cell count? Is the patients' results
within the normal range?
Platelet count: 357,198 per microliter (normal range: 150,000 to 450,000
per microliter)
YES the patients' results are within the normal range
White blood cells: 7,546 per microliter of blood (normal range: 5,000-10,000
microliter of blood)
YES the patients' results are within the normal range

12. What can cause a change in
RBC?
Genetic causes (mutations,
missenses, deletions...) can affect
genes which can result in red blood
cell abnormalities.

13. What are the consequences of
changes in RBC?
• Red blood cell carry haemoglobin so they help transport
oxygen around the body.
• A change in RBC can lead to abnormal amounts of
haemoglobin which affects the transport of oxygen.
• Red blood cells last shorter periods of times, don't
function properly and there are fewer of them in the
blood stream

14. List the patients' symptoms and
suggest how these might arise?
 Tiredness and weakness
ü Irregular heartbeats and palpitations
ü Palor and jaundice skin
ü Delayed growth and development
Decreased levels of red blood cells which cause low level of
haemoglobin lead to less oxygen transported around the
body.

15. What do you think the diagnosis
is?

16. Thalassemia
 Genetic disorder affecting the haemoglobin gene
 Autosomal recessive condition: child inherits a copy of the
mutated alpha and beta globin-producing genes from both of their
parents
1. Decreased synthesis of alpha and beta chains of haemoglobin
2. Red blood cells don't form correctly, last shorter periods
of time, have abnormal function and there are fewer of them in
the blood stream
3. Red blood cells cannot transport oxygen effectively around the body
 More prevalent in Greek, Turkish, Asian, African and Middle Eastern
populations
 Symptoms are normally experienced early on in life

17. What tests can we do to confirm diagnosis
and what would you expect?
 Peripheral blood smear to assess red blood
cell properties such as their size and shape:
abnormal size
 Iron studies (serum iron) are done to rule
out iron deficiency anaemia as the cause
 DNA analysis to confirm mutations in the
alpha and beta globin-producing genes: gene
mutation present

18. While he waits for his results, what lifestyle
changes & why?
No smoking and
drinking
1
Exercising
regularly
2
Eating a healthy
diet
3

19. What would
be the
primary
treatment &
why?
 Blood transfusion: regular blood
transfusions are required, in
certain severe cases patients need
a blood transfusion once every
month
 Chelation therapy: remove excess
iron from the body that builds up
because of having regular blood
transfusions

20. Future
treatments
and cures
 Stem cell and bone marrow
transplant
 Close monitoring and regular
treatments
 Most severe types can lead to
organ damage and be life
threatening
 With current treatment people live
into their 50s-60s and beyond

21. To summarize
 Thalassemia is a genetic disorder affecting the hemoglobin
gene
 Results in a decrease synthesis of the beta and alpha chains
of hemoglobin
 Condition is inherited from one of the parents carrying the
mutated gene
 Autosomal recessive: mutations are present in both copies of
the hemoglobin gene
 Diagnosis tests include red blood cell count (low red blood
cells), peripheral blood smear, iron studies and DNA analysis
 Treatment includes blood transfusion and chelation therapy

22. Any
questions

23. • The circulatory system is
important as it delivers oxygen
and nutrients to the rest of the
body through the blood. It is
crucial to maintain a normal
blood pressure.
• The heart has its own blood
supply via the
coronary circulation.
• Diagnostic tests for
cardiovascular disease include c
omplete blood count, blood test
and ECG
• Haemoglobin is a protein
that carriers oxygen in blood
vessels around the body.
• Research at university is very dependent
on individual involvement and extra study.
• Case studies are an important tool in
furthering diagnostic ability and
analytical thinking.
• Not all information is important, a key
skill is analysing information and assessing its
importance and relevance.
• PQRST is the regular notation of ECG graphs.
• Healthy lifestyle and diet can combat the
risk of cardiovascular disease.
• University is a great experience but it's what you
make of it!
• Teaching and learning at University is
very different to 6th form college.
Cardiovascular systems
Transition to university
Research and case studies

24. Don't forget to do the
questionnaire!
Circle the numbers that apply!
Thank you!