How Thalassaemia Occurs?
How is Thalassaemia Major Treated?
How Can We Prevent Thalassaemia Major?
What to Look Forward to In the Future
1) What is Thalassaemia?
is an inherited form of anaemia with a wide spectrum of severity, varying from the healthy to the severely
Normal red blood cells contain
haemoglobin . An inherited defect in the genes that controlled the production
of the haemoglobin results in Thalassaemia.
The two common types in Malaysia
are alpha and beta Thalassaemia.
Clinically, there are 2 forms of Thalassaemia:-
Trait (Thalassaemia Minor )
In this condition there is usually a mild anaemia with little or
no clinical disability. Most people with Thalassaemia Trait do not know they have
it. Detection is only by a blood test. Their red blood cells are
and there is slightly more
of type haemoglobin A2. Thalassaemia Trait is present
at birth , remains the same for life and can be passed on from
parents to children, ie it is inherited.
This is a severe condition in which very little or no haemoglobin A2
is synthesized. Children with
Major are normal at birth but become anaemic between the age of 3 months and 18 months .If they
are not treated , they usually die between age
between one and eight years of age.
2) How Thalassaemia Occurs?
If one parent has Thalassaemia
Trait, there is a 50% chance that their children will have Thalassaemia Minor.
If both parents have Thalassaemia
Trait, in each pregnancy there is a 25% chance that their children will have normal blood, 50%
chance of being Thalassaemia Minor and a 25% chance of being a
Thalassaemia Major .
3) How is Thalassaemia Major Treated?
The main objective of treatment is to reduce or avoid the
complications of the disorder.
Transfusion of packed red blood cells
Since Thalassaemics are
short of red blood cells, regular blood transfusions, usually every 3-4 weeks help to keep the haemoglobin within the normal
range. Blood transfusion lets the
bone marrow rest so that the bones can develop normally. It also slows down any increase in the size of the spleen.
Leucocyte filters must be used for each transfusion to remove white cells from
the donor blood otherwise Thalassaemics will develop reactions during the
Iron Chelation Therapy
With frequent transfusions, the
iron from the red blood cells tends to accumulate
in the body and cause
damage especially to the liver,
heart and the endocrine glands. To remove the extra iron from the body ( iron chelation therapy ) ,
injections of Desferrioxamine ( Desferal ) are administered under the skin
from a small pump 5-7 nights per week. Desferal will carry the iron out in the
urine. However, this form of treatment is unpleasant and often upsetting.
Children treated with blood
transfusions and Desferal will grow and lead fairly normal lives. With proper
treatment , they will be able to work, marry and have children.
Another alternative of iron
chelation is L1 ( Deferiprone ) which is taken orally,3 times a day. Some of
our Thalassaemics are on a combination therapy of Desferal and L1.
Thalassaemics are on
L1 require regular blood test monitoring
GOALS OF CHELATION THERAPY
S/C desferral at least 5x/week 8-12
Aim for serum ferritin <1000 ug/l
>2500 ug/l increase risk of cardiac complications.
TYPES OF TESTS AND FREQUENCY FOR A THALASSAEMIC ON CHELATION THERAPY?
Full blood count, neutrophil count for those on L1
Weight and height, Serum ferritin, Kidney and liver
function, Blood sugar
Yearly cardiac assessment
Yearly viral screen
Yearly hormone levels, glucose tolerance test, DEXA scan
Yearly hearing & eye test (Desferral)
Due to increasing activity and
trapping of the red blood cells, a gradual enlargement of the spleen usually
occurs. Transfusions become less effective. Thus doctors may advise take
the spleen out ( splenectomy )
4) How Can We Prevent Thalassaemi
The incidence of Thalassaemia
can be reduced if people with
Thalassaemia Trait are aware of their condition. It is advisable for immediate
family members ( parents, siblings, children )
of Thalassaemics to go for a blood test to determine their status. The
diagnosis is confirmed by a blood test called
Couples who suspect that they
could be at risk can undergo early intrauterine diagnosis of Thalassaemia .
To find out more, ask your
doctors to arrange for you to visit a genetic counselor.
5) What to Look Forward to in the Future?
T2*MRI - currently not available in Malaysia
New oral chelator ICL670, Daily dosing, generally well
Better treatment for hepatitis
Pegasys / ribavirin