"It is not only about
preventing new births of thalassemic infants; about chelation, about blood
transfusion and about availability of services needed; but also about
preventing complications related to Thalassaemia," said Dr Michael
Angastiniotis, Medical Advisor to Thalassaemia International Federation.
"We cannot take half baked
measures. Because if the patient dies prematurely, it will be a huge waste of
national resources—10-15 years worth of investment just goes down the drain.
Inadequate chelation and blood transfusion can result in hospitalization in
intensive care and cost a lot. Patients should not only be kept alive but also
grow up to be productive members of society. Besides the expertise, we also
need experienced and enthusiastic physicians, and cooperative patients who are
willing to take treatment as they grow up," he added.
The Federation of Indian
Thalassaemics and Thalassaemia International Federation recently organized a
meet in Lucknow to focus attention of the state government and NGOs on children
impacted by thalassemia in UP and to mobilize treatment and care for improving
their survival and quality of life. Michael was speaking with Citizen News
Service (CNS) at this meet.
The word thalassemia is
derived from the Greek word 'thalassa', meaning the ocean, as the patients were
initially identified along the coast of the Mediterranean Sea by Lee &
Cooley in 1925. Thalassaemia is an inherited genetic blood disorder where the
patient's body cannot produce adequate haemoglobin, resulting in a need for
continual blood transfusion. Moreover, the lifesaving blood creates an iron
overload in their system. Iron overload is the major cause of morbidity for
thalassaemia patients. The excess iron must be chelated out of their system. To
bring up and treat a person lifelong for a disease like this is not easy, even
though patients who are optimally treated can lead quality life.
The disease is hereditary
and is passed on to the child through parents who carry the thalassaemia gene.
A 'carrier' has one normal gene and one thalassaemia gene or 'thalassaemia
trait'. Most carriers lead normal, healthy lives. If only one parent is a
carrier, the offspring will be a carrier too, but not develop the disease. But
if both parents are carriers, there is a 25% chance of a thalassaemia major
child being born to them.
Dr Michael Angastiniotis
comes from Cyprus where 1 in 7 persons is a carrier (against the global average
of 1 in 20), and 1 in a 1000 people is actually diseased. It is a small country
with a reasonably good health system, so they are able to manage the patients
reasonably well. But, he agreed that it may not be easy for a diverse and big
country like India.
He stressed upon the need to
create awareness about the disease in the masses to prevent it and also to
improve quality of life of those who have it. Yes, it is difficult for people
to understand about a hereditary disease that they might pass on to their
children and hence have to decide what to do. The possible decisions could be
to not marry, or to not have a child, or to terminate the pregnancy. So we need
to identify the carriers early enough and give them non directive
counseling—not tell them what to do but tell them what are the choices
available and let them decide, he said.
Bone marrow transplant,
although risky, is a cure that is available today. But Michael shared with
Citizen News Service (CNS) the good news that there are several other ongoing
studies giving encouraging results: "The new treatments in the offing are
an added incentive to keep our patients well and free from complications
(especially of the liver and heart) so that they can benefit when the new cure
comes. And I can foresee it coming soon—within the next 3-5 years we should be
able to cure most of the thalassaemia patients."
"The gold standard
response to thalassaemia would be to achieve a normal life for a person living
with it. Till the new cure comes we need to expand experienced monitoring (and
not just basic monitoring), to monitor the patients' progress. Techniques like
MRI to measure the iron in the liver and the heart (as is being done in other
countries), must be incorporated for an integrated approach to disease
management. We must also develop experts' patients' programme, involving
patients, who have the will and intelligence to fight, to do their own
advocacy, and to teach their peers".
Mother of a thalassaemic
major daughter (who died at the age of 30), Dr Jalbala Sardana, spoke about the
challenges faced by those affected with thalassaemia in UP and the support needed
from the government. She stressed upon the need for having a registry of such
patients in UP. The present count of thalassaemia patients in UP is only 2500.
But this could be far below the actual number (which could be as high as 1000
new cases every year) as no registry has been done till to date.
"There is an urgent
need for prevention programmes as well as safe blood transfusion, free
chelation and lab testing facilities. There are very few facilities available
in UP for getting the carrier parents tested. So samples have to be sent
elsewhere and many cannot afford it. Lack of testing often results in the
tragic situation of having a second thalassaemic major child in the same
family. In Bareilly itself I know of 5 families with 2 thalassaemic children
each. Parents of a thalassaemic major child must be encouraged to go for
perinatal checkup in case of a 2nd pregnancy, and find out if the unborn child
is thalassaemic major or not. If it is, then one should advise for medical
termination of pregnancy" said Dr Sardana, who is also the Secretary of
Thalassemia Children Welfare Society.
A young woman (who looked
more like a girl, perhaps due to improper monitoring of her condition in
childhood) bemoaned, "When I go to Sanjay Gandhi Post-Graduate Institute of
Medical Sciences (SGPGIMS), Lucknow for blood transfusion, my main concern is
whether I will get a bed or not. Very often there are 3 patients to a bed and
sometimes we have to return as there is no bed available—even though blood is
available and so are the doctors. If more thalassaemia care centres are built,
it will solve this problem".
A young boy wished that the
much delayed PWD (people with disability) Bill is passed by the Parliament so
that thalassaemia is officially recognized as a disability. "It will at least
make us avail of the facilities which other disabled persons enjoy. Even though
our disability is not visible externally we face far greater problems than
other handicapped people. We also have a right to be happy, but life becomes
very frustrating at times", he said.
One out of every 8 to 10
persons in India is a victim of Thalassaemia. 50 million Indians carry the
thalassaemia trait and one thalassaemic child is born every hour in India. Over
85% of thalassaemic children die for want of proper diagnosis and/or care.
Therefore, not only ignorance about Thalassaemia in society should be removed,
but the government also needs to play a more proactive role to control this
Ref: Shobha Shukla (CNS)