THALASSEMIA

GENETICS
PROJECT
 WHAT IS THALASSEMIA?
- Thalassemia is a blood disorder that runs in families and is
inherited in children from either one or both parents.
- The origin of the word “thalassemia” is derived from the
Greek word “thalassa”, which means “the sea”, as the first
descriptions of thalassemia trace back to populations near
the Mediterranean Sea. The disease itself, however, is
common in other areas as well such as Africa, Asia, and the
Middle East.
- The total amount of people in Canada who are affected with
thalassemia is unknown, however, it is increasing due to
immigration.
 WHAT IS THALASSEMIA
Thalassemia happens when there is a mutation or deletion of
the alpha-globin genes or a mutation of the beta-globin
genes, which affects how much of a protein called hemoglobin is
found in red blood cells. Individuals with thalassemia have less
hemoglobin in their blood cells than non-affected individuals. A
shortage of hemoglobin in red blood cells has negative effects
because hemoglobin contains iron and its function is to pick up
oxygen from the air that is breathed in and deliver that oxygen
throughout the body. Thus, when a person lacks this specific
protein, blood cells do not get a sufficient amount of oxygen
which leads to a large amount of blood cells being destroyed and
a person feels a range of symptoms as well as complications.
 SYMPTOMS
A few universal symptoms of alpha
and beta thalassemia include excess
iron in the body due to frequent
blood transfusions, an enlarged
spleen because of having to filter old
or destroyed blood cells more than
the average person, and some form
of anemia.
 TYPES OF THALASSEMIA

- There are 2 main types of thalassemia:

alpha thalassemia and beta thalassemia.
These 2 types of thalassemia are named
after which gene (the alpha-globin gene
and hemoglobin-beta gene) of the
hemoglobin is affected.
 ALPHA THALASSEMIA
- When talking about alpha thalassemia specifically, a
healthy individual has 4 alpha-globin genes, 2 genes
on each chromosome 16. There are 4 types of alpha
thalassemia and when an individual contracts
damaged or is missing 1 or more 4 alpha-globin
genes, they have a certain type of alpha thalassemia
-
1. Alpha thalassemia silent carrier: individual is missing
one alpha-globin gene or it is damaged. blood cells
may be smaller than normal, there are no symptoms
of alpha thalassemia, and damaged genes can be
passed onto offspring. Blood tests are usually normal
and this type of alpha thalassemia can be confirmed
by DNA tests. Life expectancy is normal.
 ALPHA THALASSEMIA
2. alpha thalassemia carrier: individual is missing 2
alpha-globin genes and there may be mild anemia but no
need for medical treatment. Life expectancy is normal.

3. Hemoglobin H disease: individual is missing 3

alpha-globin genes. Most children are asymptomatic at
birth but may need frequent blood transfusions to help
with proper growth and development. Others may only
need blood transfusions at certain times. The life
expectancy for this type of alpha thalassemia is middle
age and beyond.
 ALPHA THALASSEMIA
4. alpha-thalassemia major: an individual is
missing all 4 alpha-globin genes, will have
symptoms similar to Hemoglobin H disease,
and will need frequent blood transfusions to
survive. It is the most severe case of alpha
thalassemia. In many cases, a baby with this
disease will die before or after birth because of
complication from severe anemia.
 BETA THALASSEMIA
When talking about beta thalassemia, a healthy
individual has 2 copies of the HBB gene (hemoglobin
beta gene), one from each parent, that provides
instructions for making beta-globin genes located on
chromosome 11. When a mutation (not a deletion)
occurs in the HBB gene, an individual can have two types
of beta thalassemia:

1. Beta thalassemia minor: an individual has one

damaged HBB gene, has mild anemia, and usually
does not need any treatment or they are
asymptomatic. Life expectancy is normal.
 BETA THALASSEMIA
2. Beta thalassemia major: an individual has two
damaged HBB genes. They have life threatening anemia,
many infections, poor appetite, need frequent blood
transfusions, and usually have a shorter life expectancy
of about 30 years. A shorter life expectancy is almost
always the result of heart failure (usually in teenage
years or the early twenties) because of iron build up in
the heart and other organs from blood transfusions.
Alpha Thalassemia
Occurs when a mutation or deletion happens in
the alpha-globin gene
4 types and occurs mostly in people from South
Asian, Middle Eastern, Chinese, and African
descent
Symptoms include moderate to severe anemia,
leg ulcers, enlarged spleen, and an extensive
amount of iron (Hemoglobin H disease and
Alpha Thalassemia Major)
Diagnosis includes blood tests (complete blood
count, hemoglobin electrophoresis test, and
free-erythrocyte protoporphyrin test) and DNA
tests. In pregnant women a baby can be
diagnosed by doing chorionic villus sampling and
amniocentesis
no cure but treatment to reduce symptoms
includes blood transfusions, doses of folic acid,
removal of the spleen, and medicine to reduce
extra iron in the body
Beta Thalassemia
Occurs when only a mutation happens in the
HBB gene
2 types and occurs mostly in those with
Mediterranean origin and sometimes in Chinese,
Asian, and African American backgrounds
Symptoms include mild to severe anemia,
frequent infections, poor appetite, fatigue, slow
growth (Beta Thalassemia Major)
Diagnosis includes blood tests (complete blood
count, hemoglobin electrophoresis test, and
free-erythrocyte protoporphyrin test) and DNA
tests. In pregnant women a baby can be
diagnosed by doing chorionic villus sampling and
amniocentesis
no cure but treatment to reduce symptoms
includes blood transfusions, doses of folic acid,
removal of the spleen, and medicine to reduce
extra iron in the body. Some cases of beta
thalassemia can be cured with stem cell
transplants and gene therapy but it is rare.
 PERSONAL CONNECTION
This is a pedigree of beta
thalassemia minor in my
family tracing three
generations of affected and
unaffected individuals from my
mom and dad’s side. My
grandma and dad are carriers
but are unaffected and one of
my brothers is also a carrier,
whereas my other brother and
I as well as my mom’s family
are unaffected.
 PERSONAL CONNECTION
This disorder in my family is
autosomal recessive since in
autosomal dominant disorders:
- both parents must be
affected
- Both parents must be
heterozygous

Additionally, it is not surprising

that there are carriers for this
disorder in my family since my
background is South Asian and
this disorder is prevalent in
South Asia.
 TREATMENT IN CANADA
The Hospital for Sick Children in Toronto treats
those under the age of 18 with thalassemia.
Currently, their haematology and oncology
department treats over 100 children with
thalassemia and the treatments they provide
include blood transfusions. Because of the
amounts of patient this hospital treats, Toronto has
the largest Sickle Cell and Thalassemia program in
North America. Other hospitals that provide care
for thalassemia include the Toronto General
Hospital and the McMaster Children’s Hospital
 RESOURCES
- Alpha Thalassemia. Alpha Thalassemia | Johns Hopkins Medicine. (2019, November 19). Retrieved April 24, 2023,
from
https://www.hopkinsmedicine.org/health/conditions-and-diseases/alpha-thalassemia#:~:text=This%20type%20cau
ses%20moderate%20to,severe%20type%2C%20alpha%20thalassemia%20major.
- Beta thalassemia. Beta Thalassemia | Johns Hopkins Medicine. (2020, July 2). Retrieved April 24, 2023, from
https://www.hopkinsmedicine.org/health/conditions-and-diseases/beta-thalassemia
- Record detail. 211 Ontario. (n.d.). Retrieved April 24, 2023, from
https://211ontario.ca/service/71894013/thalassemia-foundation-of-canada-thalassemia-foundation-of-canada/#:~:t
ext=NOTE%3A%20The%20largest%20centre%20for,Hospital%20(Division%20of%20Hematology).
- Schultz, C. L. (Ed.). (2022, March). Alpha Thalassemia (for parents) - nemours kidshealth. KidsHealth. Retrieved
April 24, 2023, from
https://kidshealth.org/en/parents/thalassemias.html#:~:text=Alpha%20thalassemia%20carrier.,t%20need%20any%
20medical%20treatment.
- Schultz, C. L. (Ed.). (2022, March). Beta thalassemia (for parents) - nemours kidshealth. KidsHealth. Retrieved
April 24, 2023, from https://kidshealth.org/en/parents/beta-thalassemia.html
- Thalassemia - StatPearls - NCBI Bookshelf. (n.d.). Retrieved April 24, 2023, from
https://www.ncbi.nlm.nih.gov/books/NBK545151/
- U.S. National Library of Medicine. (n.d.). Thalassemia: Medlineplus medical encyclopedia. MedlinePlus. Retrieved
April 24, 2023, from https://medlineplus.gov/ency/article/000587.htm
THANK YOU