THALASSEMIA

A T I FA A Z R E E N B I N T I N O R A F F A N D I
2015149927

What is
Thalassem
ia?

An inherited
blood disorder
in which the
body makes
an abnormal
form of
haemoglobin.

Haemoglobin
is the protein
molecule in
red blood
cells that
carries
oxygen.

At least one
of your
parents
must be a
carrier of
the
disease.

NORMAL AND THALASSEMIA DISEASE

PICTURE OF HAEMOGLOBIN

TWO MAIN FORMS OF THALASSEMIA

Alpha
Thalas
semia

Beta
Thala
ssemi
a

ALPHA THALASSEMIA
Alpha thalassemia is a blood disorder that
reduces the production of haemoglobin.
The alpha thalassemia patients does not
produce enough alpha protein.
To make alpha globin protein chains, we need
four genes which are two of each chromosome
16.

TWO TYPES OF ALPHA THALASSEMIA

Haemoglobin H
Haemoglobin H disease can cause bone issues. The cheeks, forehead and
jaw may all overgrow.
Hydrops fetalis is an extremely severe form of thalassemia. Most
individuals with this condition are either stillborn or die shortly after being
born.
Hydrops fetalis
Hydrops fetalis is a serious condition. It occurs when abnormal amounts
of fluid build
up in two or more body areas of a fetus or newborn. It is
a symptom of underlying problems.
Symptoms depends on the severity of the condition. Mild forms may
cause liver swelling, change in skin color (pallor).
More severe forms may cause breathing problems, heart failure, severe
anemia.

THE SEVERITY OF THALASSEMIA DEPENDS ON HOW

MANY GENES ARE FAULTY.

One faulty
(mutated)
gene

Two mutated
genes

Three
mutated
genes

Four genes
are mutated

HOW THE ALPHA THALASSEMIA TRAIT IS

PASSED ON?

BETA THALASSEMIA
In people with beta thalassemia, low levels of haemoglobin
lead to a lack of oxygen in many parts of the body.
Beta thalassemia is classified in two types depending on
the severity of symptoms.
i. Thalassemia minor
- A person with this type of thalassemia usually
experience no health problems other than a possible mild
anemia.
- In this condition, the lack of beta protein is not
great enough to cause problems in the normal functioning
of the haemoglobin.

BETA THALASSEMIA
ii. Thalassemia major (Cooleys anemia)
- The most severe form of beta thalassemia.
- Patients need frequent blood transfusions and
may not
survive a normal lifespan.
- They can be pale, fussy, have a poor appetite
and have
many infections.

HOW THE BETA THALASSEMIA TRAIT

IS PASSED ON?

CAUSES OF THALASSEMIA
Thalassemia is caused by mutations in DNA of cells that make
haemoglobin. That substance be able to carries oxygen
throughout the body.
The mutation associated with thalassemia are passed from
parents to children.
Haemoglobin has two kinds of protein chains which are alpha
globin and beta globin.
If our body does not make enough of this protein chains or
theyre abnormal, red blood cells would not form correctly or
carry enough oxygen.
Our body will not work well if our red blood cells do not make
enough healthy haemoglobin.
Genes control how the body makes haemoglobin protein

NUMBER OF THALASSEMIA PATIENTS IN 2006 TO 2010

THE TREATMENT OPTIONS FOR

THALASSEMIA
Bloo
d
tranf
usion
s

Iron
chel
atio
n
Bon
e
mar
row
tran
spla
nt

Surg
ery