Thalassaemia, a deadly disease
Dr. Mudiyanse Rasnayaka
'Thalassaemia is a disease of the red blood
cells. Red blood cells are red because it contains haemoglobin. An adult
has about five litres of blood in their body. A child has about 80 ml/kg
of blood. There are about 5 million red cells in 1 millilitre of blood.
Each red cell contains about 250 million haemoglobin molecules'said Dr.
Mudiyanse Rasnayaka of Kurunegala Teaching Hospital in an interview with
the Sunday Observer .
Q: Explain what is meant by thalassaemia and how one can get it.
A: The word Thalassaemia is derived from the Greek word "thalassa"
meaning sea, and anaemia is for the lack of haemoglobin in your blood.
The reason for this is because thalassaemia was first discovered and is
more prevalent in countries around the Mediterranean sea. It is also
called Cooley's Anaemia after American paediatrician Dr. Thomas B.
Cooley, who described the disease in 1925. However, the disease is seen
all over the world now because of the migration of people. Around the
world, nearly 4000 babies are born with thalassaemia every year, 95
percent of whom come from developing countries. In the world, 269
million people (4 percent) are thalassaemia vectors (thalassaemia minor)
who pass on their genes to their offspring even though they themselves
are not suffering from the disease.
Thalassaemia is a disease of the red blood cells. Red blood cells are
red because it contains haemoglobin. An adult has about five litres of
blood in their body. A child has about 80 ml/kg of blood. There are
about 5 million red cells in 1 millilitre of blood. Each red cell
contains about 250 million haemoglobin molecules. Each haemoglobin
molecule is made up of four haem molecules and four globin chains (shown
in picture). Haem is broken down to release iron and produce a yellow
colour 'bilirubin' which causes jaundice in thalassaemia patients and
other conditions with breakdown of red blood cells.
There are two types of globin chains - bÍta chains and alpha chains.
If there is a lack of alpha chains they have alpha thalassaemia and
if there is a lack of bÍta chains, they will have beta thalassaemia.
The production of these globin chains is based on the genetic
information found within the chromosomes of almost all 100 trillion
cells in a person.
Children acquire genetic information from their parents at
conception. If a child acquires one defective gene responsible for the
production of beta chains from one of the parents, he/she still can be
healthy if he/she has acquired a healthy gene from the other parent.
When they have acquired only one defective gene they are called
thalassaemia vectors. Thalassaemia vectors do not have any symptoms. In
fact, they have a lesser risk of death due to malaria, ischemic heart
disease or strokes. This is the only advantage of being a thalassaemia
vector but not good for their children.
Unfortunately if both parents are vectors there is a chance for both
of them to contribute defective genes to the offspring resulting in
having a double dose of the defective gene resulting in lack of
production of beta chains and causing instability and breakdown of red
cells and paving way for thalassaemia disease.
When two individuals with Thalassaemia for marry, there is a 25%
chance that any pregnancy can result in a child with Thalassaemia major.
Two of four children will have Thalassaemia Minor and 1 of 4 will be
normal. These chances are present in each pregnancy. While some families
have had only one others have had all of their children affected.
Therefore, the marriage between two thalassaemia vectors and the
resulting conception could be the only cause of thalassaemia.
Thalassaemia vectors live all over the world but mainly in countries
where there was a high incidence of malaria in the past. In Sri Lanka,
thalassaemia vectors are found in all the districts but higher numbers
are found in North Western (Wayamba), North Central and Uva provinces.
Therefore, more thalassaemia babies are born in these provinces.
Q: What are the signs and symptoms of thalassaemia and how do you
A: At birth, they look normal. However, due to gradual breakdown of
red cells, they become pale and have jaundice (yellowish discolouration).
As haemoglobin is vital for transport of oxygen, their growth is
impaired as development is low and eventually the children get retarded.
Their bone marrow expands and the liver and spleen enlarges.
Unfortunately, the children have peculiar faces and protruding stomachs.
When a child has these symptoms, it is not difficult for a paediatrician
to identity him to be a thalassaemia major patient.
Regular blood transfusions are essential for the survival of these
children. Several blood tests are done to determine a final diagnosis
which has to be done with great care before establishing that they need
Out of 4 grams of the total body, iron absorption in a healthy adult
is 3 grams which are found in red blood cells.
Therefore, regular blood transfusions given to thalassaemia patients
leads to accumulation of excess iron in their body. When the iron
reaches toxic levels, it can damage all the organs in the body including
heart, liver and the endocrine glands which can result in heart failure,
cirrhosis, diabetes, dwarfism, hypothyroidism and delayed puberty. There
is no natural mechanism to remove unwanted iron from the body. Hence,
the patient is given medicinal drugs daily. There are two types of
drugs. The first is Deferoxamine which is commonly used and most
effective. It is an injection given daily as an infusion lasting for
8-12 hours using a battery driven pump at night. The second drug is
Deferasirox which is a tablet taken orally three times a day but it does
have some side effects. There is a new drug, to be taken once a day
which is being developed and it will be introduced in Sri Lanka soon.
Q: According to reports, there are 2000 thalassaemia patients and out
of this number, almost 100 children are born with thalassaemia annually
in Sri Lanka. Is the incidence of this disease increasing in Sri Lanka?
What makes it a dangerous disease?
A: Yes, the estimated incidence is around 80-100 per year. Therefore,
we have about 1600 - 2000 patients in the country. Unfortunately, we
don't have a thalassaemia register and the exact incidence is unknown
but this is not an increase. However, good quality treatment will help
thalassaemia patients live longer if they take regular blood
transfusions and medication daily.
In this sense, the cost of health care will increase not just twice
but by several folds. Therefore, there is a possibility of patients not
living longer due to exorbitant costs.
In Sri Lanka, out of 160,000 marriages, only 160 marriages would be
between two thalassaemia vectors. These 160 unfortunate marriages
contribute to the thalassaemia population in the country producing about
80 thalassaemia major patients per year (depending on the chance). The
birth of one thalassaemia case will add over Rs.10 million to the future
Q: How is a person's blood checked for thalassaemia?
A: The first test is the usual Full Blood Count (FBC) that we
commonly do when you have fever and suspected dengue. But in this test,
to recognize thalassaemia, we look at the Mean Corpuscular Volume (MCV)
and its Mean Corpuscular Haemoglobin content (MCH). If the MCV value is
above 80 fl and MCH is above 27pg they are unlikely to be thalassaemia
vectors, they would be given a green card. If the MCV value is less than
80 fl or if the MCH value is less than 27 pg, they have an iron
deficiency (anaemia) or they are thalassaemia vectors.
Therefore, they can be given iron therapy for three months or
investigated further for iron deficiency. Iron deficiency is common and
people may be tolerating symptoms like reduced efficiency of work. After
iron therapy, they should repeat the blood test and if the MCV and MCH
continue to remain low, the problem is likely to be come up because they
have become a thalassaemia vector. They should go for the confirmatory
test which is called HPLC, available at the Ragama Teaching Hospital. It
will be available in Badulla and Kurunegala hospitals soon. If they are
confirmed to be thalassaemia vectors, they are given a pink card.
Q: Together with the government hospitals, how has the National
ThalassaemiaCentre helped patients? What are the financial implications
in treating a patient at hospitals?
A: The National Thalassaemia Center has over 500 patients and all the
patients are managed by the Ministry of Health. The average cost of
healthcare for one patient would be nearly three hundred thousand rupees
annually. So imagine if you calculate the total cost per year for 1600
Q: How can healthy people prevent themselves and their children from
getting thalassaemia if they are at a risk?
A: There is what is called checking the Thalassaemia horoscope.
Everybody should check to see whether he is a thalassaemia vectors
before the selects his marriage partner. Until one tests one's blood,
one will never know if one is a thalassaemia vector.
If you are not a thalassaemia vector, you will be given a green card
and you don't have the risk of having babies with thalassaemia, even if
you marry a thalassaemia vector.
If you are a thalassaemia vector you will be given a pink card and
you have to be careful when you marry another thalassaemia vector or
someone who has not been tested.
If everybody follows this advice from the year 2010, none of them
will have babies with thalassaemia.
Q: Are there any countries where this thalassaemia goal has been
A7: Yes. One of best examples is Iran where they had about 1200
thalassaemia births per year before 1998. They introduced pre-marriage
screening in 1998 where they counselled couples if both of them are
vectors about the risk of thalassaemia.
Fifty percent of marriages were given up. Others who got married
knowing the risk for thalassaemia limited the number of their children
to two. The result was reduction of thalassaemia below 100 by 2002.
In Cyprus, the thalassaemia carrier rate is very high but they have
very successfully controlled the thalassaemia major cases. Now they have
hardly any thalassaemia patients. They screen children when they are
young and give them a green card if they are not vectors and a red card
if they are vectors.
It is compulsory for all the high risk marriages to undergo medical
counselling. People understand the risk of marriage between two vectors.
In addition, they have facilities to test genetics of the unborn babies
early after the conception by doing 'chorionic villi biopsy', so that
affected babies can be aborted.
In our country, this method cannot be adopted because abortions are
illegal. However, even though 'chorionic villi biopsy' can be done,
prevention is better than cure so don't have children if you are married
to a vector.
Q: What is the best way to overcome this disease?
A: It is your decision regarding testing for thalassaemia vectors
status and avoiding a high risk marriage. More importantly you and your
unborn baby will have to suffer if you don't adhere to the advice.
Q: Are there any vaccinations or methods to prevent children and
'risk groups' from getting thalassaemia? Are there studies being done to
find a cure for it?
A: There is no vaccine or cure at present but there is a possibility
of transplanting bone marrow from a healthy person.
However, this is expensive and facilities are not available in the
country at present. There are other methods of thalassaemia prevention
practised in other countries.
Fifty percent of ovum produced by a thalassaemia vector woman has
defective genes while 50% of ovum is normal.
Advancement in technology has made it possible to fertilize a normal
ovum in order to ensure a thalassaemia-free baby. This technique
involves 'in vitro fertilization' and advanced genetic testing. Such
facilities will be available in Sri Lanka soon.
However, it is essential for everybody to find out whether he/she is
In Sri Lanka, the Wayamba Thalassaemia Elimination project has been
launched. We are planning to screen five hundred thousand of the
population above 15 years before they select their partners for
Once the program is established every year, around 40,000 people
would be screened regularly. Education programs for doctors, nurses,
registrars of marriages and marriage brokers have been arranged.
'Save a life'
A young patient being examined by a doctor
A patient undergoing treatment at the clinic
The best gift a person can have is good health, but unfortunately
several thousands of people fall sick daily due to many reasons, be it
environment pollution, development of technology or changing lifestyles
everything contributes to some sickness.
Many sicknesses can be cured quickly while some need care over a long
period or care for the rest of the life.
Sicknesses such as kidney failure needs lifelong care but
unfortunately most of the relatives of these patients are not in a
position to find the necessary funds for treatment which puts the life
of the patient at risk.
Most of the patients in the Anuradhapura area cannot even afford the
bus fare to get to a hospital when their life is at risk.
Kidney ailments are fast spreading in the Anuradhapura area where
most of the victims are innocent farmers who toil hard to eke out a
living. Don't we need to pay our gratitude by contributing a little bit
to save their lives for which they will be ever grateful.
According to statistics the North Central Province of the country
with a population of 1.2 mln. mainly impoverished villagers, has
recorded an extremely high Incidence of Chronic Kidney Diseases (CKD)
and End Stage Renal Failure (ESRF) resulting in unprecedented levels of
fatalities among all ages.
Approximately 20% of the patients are classified as 'end stage
patients' of which 80% die due to the lack of proper medical care.
Over 2000 patients receive treatment at the newly set-up makeshift
clinics daily. Of this number 700-800 patients are critically ill and
are in urgent need of further treatment which includes kidney dialysis
There is a limit the government can spend. Therefore, it is time for
the philanthropists to come forward to save a life. One such instance of
generosity was extended when the Rotary Club of Colombo West led by
Nissanka Samaratunga and the National Kidney Foundation initiated the
project 'Save a Life' to equip the Anuradhapura Renal Care & Renal
Research Centre with the urgently needed equipment at a cost ranging
between Rs. 50-60 mln.
He said that this is one of the main projects undertaken by the
Rotary Club of Colombo West during the year 2009/2010.
It has reached epidemic proportions but most people in Colombo don't
even know about the disease. Once we got to know of this project three
of us visited the hospital to see for ourselves and then on there was no
Once the project is completed the centre will be equipped with 24
haemodialysis units, a research laboratory, two operating theatres to
perform kidney transplant surgeries, a scanning and radiology unit,
pharmacy, auditorium as well as fully equipped and furnished wards for
patients to undergo dialysis and transplants free of charge.
He said the project was launched with a charity dinner on December 07
and we are targeting to complete the project by March next year.
Already Rotary clubs in two districts of Malaysia and 14 districts of
Germany have come forward to support the project Samaratunga said that
the Anuradhapura Renal Care & Renal Research Centre is a project of the
National Kidney Foundation of Sri Lanka which has already raised Rs 300
mln towards the construction.
It is a six storied building with wards, operating theatres,
outpatient clinics, pharmacy as well as a laboratory.
It is ready to provide treatment for 200 in house patients and an
even a larger number of outpatients daily.
He said that some of the equipment needed include anaesthetic
machines and monitors, operating tables, operating theatre lamps and the
list goes on. This is the season of giving and all Sri Lankans have a
large heart. Therefore let us get together and support this worthy cause
to bring a smile to the innocent faces of the patients and their
Long-term exercise can slow the effects of aging
It's no secret that being a couch potato can lead to ill effects on
your health. Scientists have long known that regular exercise can go a
long way in the prevention of heart disease and cancer. However, a group
of German researchers have discovered that the secret to maintaining
youth may also be connected to physical activity, and that the key to
slowing the aging process may be revealed by looking at the body's
cells. The report was recently published in the journal of the American
Heart Association, Circulation.
Dr. Ulrich Laufs, a professor of clinical and experimental medicine
in the department of internal medicine at Saarland University in
Homburg, Germany, and colleagues, found that the white blood cells of
endurance athletes had longer telomeres than those of healthy,
nonsmoking adults who did not follow a regular exercise program.
Telomeres are DNA located at the ends of chromosomes that protect the
tips of the chromosomes from damage.
According to Emmanuel Skordalakes, an assistant professor of gene
expression and regulation at The Wistar Institute in Philadelphia,
telomeres work in much the same way that shoelace tips prevent fraying
of the laces.
Skordalakes explained that as cells continue to divide over the life
span, the telomere is shortened with each division until it becomes so
short that the cells cease dividing.
This causes aging, leading to loss of muscle strength and skin
elasticity, as well as hearing ability, vision, and mental abilities.
During their analysis, the researchers compared the length of the
white blood cell telomeres of endurance athletes to those of healthy
nonsmokers of the same age who exercised less than one hour weekly.
One group of athletes who participated in the study were members of
the German National track and field team, who ran more than 45 miles
weekly, and had an average age of 20.
A second group of participating athletes with an average age of 51
had taken part in endurance exercise by having run an average of about
50 miles weekly since youth.
The athletes were found to have better cardiovascular health as
indicated by a slower resting heart rate, lower blood pressure, a lower
body mass index, and lower cholesterol than the non-athletes.
In addition, the athletes had longer telomeres, and increased
activity of telomerase, an enzyme that maintains the telomere.
The findings support previous research on telomere length in twins
that found on average that exercise makes cells nine years younger, and
indicated that the greater your activity, the greater your benefit.In
addition to human subjects, the researchers also used mice to analyze
the impact of physical activity on proteins associated with heart
disease and cancer. Results showed that mice given access to a running
wheel for three weeks experienced increased activity of both
tumor-suppressing proteins, and proteins linked to telomere length.
Regarding the study findings, Dr. Laufs said in a statement, "This is
direct evidence of an anti-aging effect of physical exercise." In the
study report, he and his colleagues concluded, "Our data improve the
molecular understanding of the vasculoprotective effects of exercise and
underline the potency of physical training in reducing the impact of