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Labtech
The Thalassemia Saga
Sadly, plain ignorance and unawareness about thalassemia
is making it a deadly disease, even though all that is required is a simple
blood test to prevent it from spreading.
Dr Arvind Lal |
If one asks an average Indian about thalassemia, chances are
that he or she may not even have heard about it. In comparison, consider awareness
on cancer, diabetes or heart diseases. AIDS, of course, is the most commonly
discussed 'exotic' disease. Thalassemia is a fairly prevalent disease in India,
with the Northern part contributing a large number of silent carriers and patients.
Consider this. India has an estimated four crore thalassemic carriers, which
means one out of every 25th Indian is a carrier of this deadly disease. What's
worse, an estimated 10,000 children are born with this every year. About 80-90
per cent of these thalassemic infants die either undiagnosed or because of lack
of proper treatment, and yet, a large part of our population remains blissfully
clueless.
It's in the Genes
Thalassemia, in the language of genetics, is an ‘autosomal recessive disease’.
This genetic defect affects the hemoglobin present in the red blood cells of
the body. Normally, the haemoglobin binds the oxygen to it and then carries
it to the various organs and tissues in the body, thus making the organs 'breathe'.
In thalassemic patients, due to the genetic defect, haemoglobin becomes more
'brittle' resulting in a very short life-span of the red blood cell. There are
classically three varieties of thalassemia—thalassemia major, thalassemia
intermedia and the thalassemia minor, also known as the 'carrier' or 'silent'
variety. In thalassemia major, the destruction of haemoglobin far outpaces the
production, thus leading to severe anaemia or lack of haemoglobin. This causes
paleness, retarded growth, and enlargement of liver, spleen and heart resulting
from the deposition of iron in these organs. This normally leads to death between
one to five years of age.
Since this is a haemoglobin defect, the wider name of 'haemoglobinopathies'
for such disorders is also used in medicine. There are again different varieties
of haemoglobinopathies with HbS (sickle cell disease) and HbD (Punjab) being
fairly common in India.
In India, about four per cent of the population are thalassemic carriers. The
prevalence of thalassemia is very high among communities of Punjabis, Sindhis,
Gujaratis, Bengalis, Parsis and Lohanas. In fact, there is a high incidence
of thalassemia (up to 15 per cent) amongst Punjabis and Sindhis, who migrated
from West Pakistan. In the capital alone, about 200 thalassemia major children
are born every year.
Rising Cases
In an Indian Council Of Medical Research (ICMR) study conducted between September
1984 and April 1988 in Mumbai, Delhi and Kolkata, out of 12,000 school children
examined, the prevalence of thalassemia was 2.7 per cent in Mumbai, 5.5 per
cent in Delhi and 10.4 per cent in Kolkata.
Tests conducted at Dr Lal PathLabs also show an upward trend. In 2005, of the
12,120 thalassemia tests by the special Hb HPLC/electrophoresis technique, 1,738
or 14.34 per cent were reported as thalassemia minor and 82 or 4.7 per cent
as thalassemia major.
While skeptics may rejoice at the low number of thalassemia majors, ignorance
about the disease is likely to lead to increasing numbers of thalassemia gene
carriers, who on marrying each other are likely to result in 25 per cent chance
of giving birth to a thalassemia major baby. Ignorance is not such a bliss after
all.
- The term thalassemia is derived from the
Greek word 'thálassa' or sea (alluding to the Mediterranean Sea,
while 'emia' is blood in Greek).
- The disease was first reported among children
in Mediterranean countries. The other names of thalassemia are Mediterranean
Anaemia and Cooley's anemia (after a doctor scientist).
- Alexander's army is supposed to have 'infected'
our country with this blood disorder between 326-323 BC.
- Unfortunately, today the disease has spread
much beyond the Mediterranean shores as over 250 million people are
affected by thalassemia and allied disorders all over the world.
- Over 1,00,000 thalassemia majors are born
annually the world over.
- The South-east Asia region alone accounts
for about 50 per cent of the world carriers (people who carry the thalassemia
gene without suffering any of its ill effects).
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Treatment
Anaemia in thalassemia major cannot be treated with any medicine or any type
of dietary supplements. The only solution is repeated blood transfusion every
two to four weeks. Drugs like Desferral, which chelate the iron deposited, have
to be administered along with to remove extra iron, which is also responsible
for early deaths in thalassemia.
The treatment is very costly and unaffordable by most lower
middle-class families. For example, the costs of chelation for removing excess
iron and for blood transfusion is close to Rs 10,000-Rs 15,000 per month. Chelation
injections cost approximately Rs 2 lakh per year. While treatment with the bone
marrow transplant is possible, but its enormous cost—over Rs 6 lakh, high
risk associated with it and lack of 100 per cent matching donor, restrict its
viability.
The costs of the latest treatment - stem cell replacement is prohibitive. Barring
a few hospitals in India, most do not have the required infrastructure and standards
for carrying out these procedures. Thus, apart from causing an emotional and
psychological turmoil, thalassemia also poses a huge financial burden for the
family.
Precautionary Warning
 In
view of the above facts and the nature of the disease, it is perhaps prudent
to adopt the age-old English adage that 'prevention is better than cure'. For
the primary prevention, as a concerned citizen of India and practicing physician-pathologist
for over 30 years, I will advise thalassemia minor or carrier detection as the
first step to counter this disease.
Regular blood tests, especially in the school going age, will catch these carriers
early, thus giving the parents a fighting chance to ward off thalassemia major
babies being later. It is now mandatory for all obstetricians to find out the
thalassemic status in pregnant mother during her pregnancy. If the mother is
negative for thalassemia minor, nothing more is to be done. If the mother turns
out be positive, then her husband must be screened for thalassemia minor also.
If the father also turns out be positive, then a special test—ante-natal
detection of thalassemia major by molecular diagnostics is to be carried out.
If the unborn child is found to be positive for thalassemia major, the child
must be aborted. Countries with a very heavy prevalence of thalassemia minor
like Cyprus have decreased their thalassemia major population by this method.
It must be remembered that 25 per cent of babies born from thalassemia minor
parents will be suffering from thalassemia major. Thus, there is a 75 per cent
chance that the unborn child may not be suffering from thalassemia major.
Match Blood than Kundlis!
I have one more suggestion to offer and this is directed to all those parents
who are planning to have their sons and daughters married in the near future.
While I have no objection to getting their 'Janam Kundlis'(astrological chart)
matched by an astrologer, do not forget to get their children checked for thalassemia
at an accredited medical diagnostics laboratory before letting them tie the
knot!
Although this is a must in families with a history of thalassemia, it would
be very beneficial for everybody to know their thalassemia status. At Dr Lal
PathLabs, we conducted Thalassemia Week (May 1-15) in association with Thalassemics
India, where we offered screening tests at discounted prices. Let's combine
our strengths and fight this killer disease together.
The writer is Chairman & Managing Director Dr Lal PathLabs
Pvt Ltd
E-mail: alal@lalpathlabs.com
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