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What Do You Want To Know About
Thalassaemia
(Carrier)
Thalassaemia is not uncommon in
Malaysia
5 in every 100 people are thalassaemia carriers
What is blood?
Blood consist of a yellow fluid called plasma and different
types of blood cells such a red blood cells and white
blood cells
Red blood cells contain haemoglobin; a substance that carry
oxygen
The body needs oxygen to function and haemoglobin
carries the oxygen from the lungs and delivers it to
different parts of the body
Blood is red because of the iron content in the haemoglobin
Thalassaemia is a disease of red blood cells
Red blood cells
There are millions
of haemoglobin
in each red
blood cell.
Each haemoglobin carries
4 molecules of oxygen (O2).
Basic structure of haemoglobin
protein
Each haemoglobin is made up of iron and 4 protein chains
The adult haemoglobin ( Hb A ) is made up of 2 alpha
and 2 beta chain
What are genes?
Every human characteristic like eye colour, height, or type of
haemoglobin is controlled by “genes” which is inherited from
the parents. A child inherits two genes for every characteristic
(one from each parent)
You look like your parents because you have inherited half of
your father’s and half of your mother’s genes
What is a thalassaemia carrier?
A carrier has inherited one normal gene and one
thalassaemia gene .The thalassaemia gene cannot produce
haemoglobin, or can only produce a small amount
GENE
CHROMOSOME
PROTEIN
Thalassaemia carriers have less haemoglobin in each red
blood cell and their red blood cells are smaller than usual
Thalassaemia carriers healthy and normal
CELL
DNA
A carrier can only be detected through thalassaemia
screening
Why is it important to know that
you are a carrier?
It gives you an opportunity to choose a partner who is
not a carrier
When you are ready to get married it is very important
that you and your part go for genetic counselling. Your
partner will also be screened for thalassaemia
If you and your partner are both carrier there is a 1in 4
chance that your child will have thalassaemia major
If your partner is not a carrier then all your children will
be healthy
How can a child inherit the thalassaemia gene?
A child inherit one gene for haemoglobin from each parent.
This picture shows when one parents is a thalassaemia carrier.
Father or mother is a thalassaemia carrier
Carrier
Normal
(25%)
Normal
Carrier
(25%)
Normal
(25%)
Carrier
(25%)
How can a child get thalassaemia major?
Both father and mother are thalassaemia carriers
Carrier
Thalassaemia
Patient
(25%)
Carrier
Carrier
(25%)
Carrier
(25%)
Normal
(25%)
How to know if you are carrier?
Through blood test:
A sample of blood is required
The blood sample is sent to the laboratory for testing
The blood results will then be informed
Blood film examination
Red blood cells of a normal person
Red blood cells of a carrier
Blood film examination
Red blood cells of a normal person
Red blood cells of thalassaemia patient
Algorithm for screening of thalassaemia in Malaysia
Laboratory instruments
Haemotology Analyser
Automated electrophoresis system
HPLC system
THALASSAEMIA
IS AN INHERITED DISORDER
Go for thalassaemia screening
before starting a family
THANK YOU