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
Upload your answers on the padlet
Discuss the diagnosis, physiological mechanisms and
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
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
• Internal bleeding, kidney disease, malnutrition
High red blood cells count:
• Congenital heart disease
• Low blood oxygen
• Pulmonary fibrosis
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
• At high oxygen concentration
in the lungs: oxygen
binds to haemoglobin in red
blood cells and
• At low oxygen concentration
organs: oxyhaemoglobin turns in
7. Patient X
Presents at their GP:
• 6 months old child
• Severe tiredness and weakness
• Heart fluttering with irregular
• Pallor and jaundice skin
• Delayed growth and development
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:
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
For men: normal range is 4.0-5.9 million per litre of
For women: normal range is 3.8-5.2 million per litre of
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
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
Genetic causes (mutations,
missenses, deletions...) can affect
genes which can result in red blood
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
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
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
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
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:
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
18. While he waits for his results, what lifestyle
changes & why?
No smoking and
Eating a healthy
19. What would
Blood transfusion: regular blood
transfusions are required, in
certain severe cases patients need
a blood transfusion once every
Chelation therapy: remove excess
iron from the body that builds up
because of having regular blood
Stem cell and bone marrow
Close monitoring and regular
Most severe types can lead to
organ damage and be life
With current treatment people live
into their 50s-60s and beyond
21. To summarize
Thalassemia is a genetic disorder affecting the haemoglobin
Results in a decrease synthesis of the beta and alpha chains
Condition is inherited from one of the parents carrying the
Autosomal recessive: mutations are present in both copies of
the haemoglobin gene
Diagnostic 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
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
• The heart has its own blood
supply via the
• Diagnostic tests for
cardiovascular disease include c
omplete blood count, blood test
• 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
• 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.
Transition to university
Research and case studies
24. Don't forget to do the
Circle the numbers that apply!
Hinweis der Redaktion
5-7 minutes discussion
Consanguineous marriage is customary in most if not all Arab communities and intra-familial unions currently account for 20–50 % of all marriages.
the highest consanguinity rates being observed in North Africa and the Middle East, where the proportion of consanguine marriages stands at 30% to 40% in rural or disadvantaged areas (Bener and Mohammad, 2017; Bittles, Mason, Greene and Rao, 1991; Tadmouri, et al., 2009). Consanguinity doubles the risk of genetic anomalies, from 2% to 3% for non-related individuals to 4% to 5% for a couple of first cousins.
due to the high rate of consanguineous marriages in the Iranian population (30-80 %)
Consanguineous marriage is traditional and respected in most communities of North Africa, Middle East and West Asia, where intra-familial unions collectively account for 20–50+% of all marriages (Bittles 2011; Hamamy et al. 2011; Tadmouri et al. 2009) [Fig. 1].
One billion people worldwide live in countries where marriage among relatives is common. Of this billion, one in three is married to a second cousin or closer relative or is the progeny of such a marriage. The frequency of genetic disorders among such children is around twice that in children of non-related parents.