1. 08th of May : World Thalassaemia Day
Screening and marriage counseling
An easy way to prevent Thalassaemia
The marriage is expressed by the most of Sri Lankans as “ Bamba ketoo hati” in their
words. It means that the marriage is decided through unseen powers such as Brahma.
Prior to the marriage, matching of the partners will take place according to their ethnic
and religious concepts too. Nevertheless, this type of matching, is incomplete when the
couple get a new born baby with hereditary disorders. Hence few more matching of
marital partners should be completed to avoid these easily preventable problems.
Thalassaemia represent a higher position in the list of preventable hereditary disorder
through screening , clinical matching and marriage counseling. It has a long history, over
50,000 years in the world. Thalassaemia is derived from a Greek word of ‘ Thalasa’
means ‘sea’ because it was found in a valley south of Italy and Greece covered by the
Mediterranean sea.
The thalassaemias are the commonest inherited haematological disorders and also the
commonest single gene disorders in the world population. It is also a major cause of
mortality and morbidity in South East Asian region. It is a significant burden to the
health services and economy of many countries.
A basic knowledge on blood and anaemia is necessary to understand about thalassaemia.
The blood consists of cells and the liquid part of plasma. The white blood cells, red blood
cells and platelets represent the cellular elements of the blood. A red coloured , oxygen
carrying pigment, called haemoglobin is found in the red blood cells. Haemoglobin is
essential for body metabolism as it carries oxygen to the cells . A person will develop
anaemia, when there is a decrease in the level of haemoglobin in the blood below the
reference level for the age and sex.
This genetic haemotological disorder of thalassaemia is characterized by absent or
decreased production of normal haemoglobin, resulting a anaemia. The haemoglobin
molecule consists of a haem and globin . The protein moiety of globin synthesis is
impaired , as there is a mutation of the genes in thalassaemia. According to these

2. mutations, synthesis of the main globin chains, namely alpha and beta is markedly
reduced. Eventually, it leads to a decreased production of haemoglobin with anaemia.
Then the disease state is named as beta thalassaemia or alpha thalassaemia, depending on
the relevant type of globin chain , production of which is impaired due to this disorder.
There are two forms of thalassaemia, called as thalassaemia major with clinical
manifestations and thalassaemia minor without clinical manifestations. Thalassaemia
major is a severe inherited childhood anaemia in which haemoglobin synthesis is highly
inadequate. These children are normal at birth but become grossly anaemic within the
first year of life with failure to grow, poor feeding, intermittent fever and delay in
improving from recurrent infective illnesses. They need regular blood transfusion in life
to avoid fatal complications and to secure optimum growth and development. As the red
blood cells in the transfused blood are broken down, the iron released from these cells are
accumulated in their body. The overload of iron can damage the vital organs, such as
heart, liver and pancreas to cause heart failure, liver disease and diabetes. Therefore iron
chelation therapy with the drugs such as Desferrioxamine has to be continued
concurrently with blood transfusion to avoid these complications by removing extra iron
from the body.
The persons with thalassaemia minor , known as carriers of thalassaemia are healthy
and normal but some of them can manifest milder degree of anaemia. This carrier stage is
commonly discovered while they are undergoing a test of blood picture for some other
circumstances.
The beta thalassaemia is the most important form of thalassaemia, causing a major
public health problem in many countries. It was estimated that 1.5% of world population
are carriers of beta thalassaemia and around 70,000 beta thalassaemic babies are born
annually. The alpha thalassaemias are commoner than the beta thalassaemias but the
consequent public health problems are less as the mild form of the disease do not produce
major disabilities.
Currently, more than 2500 of childrens are living with thalassaemia major in Sri Lanka.
The highest number of patients are reporting in Kurunagala, Kandy, Anuradhapura and
Badulla districts. About one hundred new patients are accumulating to the total number
annually. The country has to allocate 7% to 10% from total health expenditure for the
clinical management , necessary for these patients. It was stated that the expenditure is
around ten million rupees in managing one thalassaemic patient in lifetime.
If both partners are thalassaemic carriers there will be 25% chance of giving birth to
baby with thalassaemia. If the thalassaemic carrier marry a normal partner there will be
no risk of getting a thalassaemic baby. There is no possibility in having a thalassamic
baby, if marriage between a thalassaemic patient and a normal partner too. Therefore

3. prevention from thalassaemia is not a difficult task if the people are aware about these
simple scientific facts.
The thalassaemia carrier state could be identified by simple blood tests. It is very
important to know whether they are carriers of the disease prior to marriage, especially
when they are living in areas with high prevalence of thalassaemia , such as North
central, North western, Uva, Central and Western provinces of Sri Lanka. The one
essential act to avoid is the marriage between two thalassaemic carriers. As the facilities
in screening for thalassaemia and counseling are currently available provincially, the
public will have the responsibility to use these services wisely.
08th of May marks the World thalassaemia day. It should be noted that the quality of
life of the thalassaemic patients , is improving from day to day with the advances in
treatment. While giving proper care to the people who has developed the disease, every
body should try their level best to prevent from the disease .
Dr.SHANTHA HETTIARACHCHI