Thalassaemia is a
chronic hereditary, hemolytic disease caused by faulty.
Synthesis. It is a genetic blood disorder in which the bone marrow
cannot form sufficient red cells and red cell survival is also
reduced. A disorder that was thought of as untreatable in the
earlier times is not so anymore, if managed and treated properly,
patients can live fulfilling lives. The disease is widely spread in
Mediterranean African and Asian countries.
Hemoglobin is a protein that is carried by red cells. It picks up
oxygen in the lungs and delivers it to the peripheral tissues to
maintain the viability of cells. Hemoglobin is made from two similar
proteins that “stick together”. Both proteins must be present for
the hemoglobin to pick up and release oxygen normally. One of the
component proteins is called alpha, the other is beta. Before birth,
the beta protein is not expressed. A hemoglobin protein found only
during fetal development, called gamma, substitutes up until birth.
The composition of hemoglobin is the same in all people. The genes
that code for hemoglobin are identical throughout the world.
Occasionally, however, one of the genes is altered by any of a
variety of “accidents” that can occur in nature. These alterations
in the genes (called “mutations”) are very rare. Since genes are
inherited, and they contain the information needed to make a
protein, if a mutation produces an abnormal hemoglobin gene in a
person, the gene will be passed on to his or her children. The
children will produce modified hemoglobin identical to that of the
parent. Most mutations in hemoglobin produce no problem.
Occasionally, however, the alteration in the protein changes aspects
of its behavior. The types of disorders that can result include
sickle cell disease and Thalassaemic.
Genes can suffer damage to an extent that they no longer produce
normal amounts of hemoglobin. Usually, only one of the sets of
hemoglobin genes is affected, that is the alpha gene set or the beta
gene set. For example, one of the two beta globins genes may fail to
produce a normal quantity of beta chain protein. The alpha globins
gene set will continue to produce a normal quantity of alpha chain
protein. An imbalance develops in the amount of alpha chain and beta
chain that is present. This imbalance is called “Thalassaemia”.
The genes involved in Thalassaemia control the production of a
protein in red cells called hemoglobin. Hemoglobin binds oxygen in
the lungs and releases it when the red cells reach peripheral
tissues, such as the liver. The binding and releases of oxygen by
hemoglobin is essential four subunit proteins. Two of the subunit
proteins are called alpha and two are called beta. Hemoglobin
properly binds and releases oxygen only when two alpha subunits are
connected to two beta subunits. A pair of genes located on
chromosome 16 controls the alpha subunits of hemoglobin. A single
gene located on chromosome 11 controls the production of the
hemoglobin beta subunit.
This is one of the most challenging diseases being faced by mankind
with virtually no permanent treatment for those who suffer from it.
The only real treatment is periodical replenishment of blood through
We are working very hard on this disease. So far there has been a
limited success and two distinct treatment strategies have been
designed. We have found these to work on a good percentage of cases.
However, though this percentage is small it is infinitely better
than what is available from conventional medicine where there are
virtually no successes to show.
As can be seen from the citing the patient's need for blood
transfusion has gradually diminished and ultimately stopped. At the
same time the patient's Hemoglobin count gradually rose and allowed
him/her to lead a normal life.
of Thalassemia in India
Thalassemia syndromes are a heterogeneous group of single gene
disorders, inherited in an autosomal recessive manner, prevalent in
certain parts of the world(1). Worldwide, 15 million people have
clinically apparent thalassemic disorders. Reportedly, there are
about 240 million carriers of β-thalassemia worldwide, and in India
alone, the number is approximately 30 million with a mean prevalence
of 3.3%(2,3). They are encountered among all ethnic groups and in
almost every country around the world.
Every year approximately 100,000 children with Thalassemia Major are
born world over, of which 10,000 are born in India. It is estimated
that there are about 65,000-67,000 β-thalassemia patients in our
country with around 9,000-10,000 cases being added every year(1-7).
The carrier rate for β-thalassemia gene varies from 1 to 3% in
Southern India to 3% to 15% in Northern India. Certain communities
in India, such as Sindhis and Punjabis from Northern India,
Bhanushali’s, Kutchis, Lohana’s from Gujarat, Mahar’s, Neobuddhist’s,
Koli’s and Agri’s from Maharashtra, & Gowda’s and Lingayat’s from
Karnataka etc. have a higher carrier rate(3,4).
Once a child is diagnosed to have thalassemia homozygous disorders,
he/she has to take lifelong treatment. Management includes regular 3
weekly filtered packed red cell transfusions, chelation therapy for
iron overload, management of complications of iron overload and
transfusions, including osteoporosis, cardiac dysfunction, endocrine
problems, Hepatitis B & C, HIV infection, CMV etc. However, this
optimal treatment comes at a prohibitive cost. The cost of treatment
of an average weight 4-year-old thalassemic child is around Rs.
90,000-100,000 annually in a private set-up. Therefore, not more
than 5-10% of thalassemic children born in India receive optimal
treatment. Stem cell transplantation as a curative treatment, which
costs between 6 and 16 lac rupees is out of reach for majority of
Besides bearing the cost of treatment, the psychological stress to
both the patient and the parents/family is phenomenal. In fact, it
is startling to know from a 15 year old thalassemic child the
account of what he has undergone so far. He has received around 250
units of packed red cells and 4000 injections of desferioxamine. He
has had a needle in his body for over 40,000 hours of his life. His
family has already spent Rs. 16,20,000 for chelation alone. If this
child lives for 50 years, then he would require 2000 units of packed
red cells, 15,000 desferrioxamine injections, which translates into
1.5 lac hours of a needle in his body and Rs 90 lacs for chelation
alone (personal communication). This is besides the cost incurred by
the hospital where he receives his regular treatment including
packed red cell transfusions and other medical care.
The birth of a thalassemic child thus places considerable strain not
only on affected child and family but on society at large. Therefore
there is emphasis for shift from treatment to prevention of birth of
such children in future. This can be achieved by:
screening of high risk communities for thalassemia minor
counseling of those who test positive for thalassemia minor
The question that arises in the mind is whether prevention at a
national level is cost-effective. The answer to this is Yes, it is
cost-effective and we should strive to prevent the birth of a
thalassemic child. In a study done in Iran, it was concluded that
the ratio of cost of treatment to prevention of thalassemia is
16:1.6 (5). A similar result was published by Ostrowsky et al. (6)
from Quebec, Canada. They found that the total cost per case
prevented was less than the cost of a single year of treatment for
an individual with the disease. Further, they found that with
current rates of marriage and endogamy, the costs that would accrue
by having to treat individuals with thalassemia were more than twice
those incurred by the delivery of the prevention program. A World
Health Organization committee, in a study, stated that in Cyprus,
the annual cost of running the screening and prenatal diagnosis
program was found to be about equal to the cost of treatment of all
existing patients for five years. In Sardinia, the committee
estimated that a 90 per cent reduction in the incidence of
thalassemia disease would recoup the cost of setting up a prevention
program in three years from the start of the services; thereafter
the total cost of treatment would fall steadily over the next five
years to about one-fifth of the projected cost of treatment(7).
Prevention of thalassemia, therefore is practical, feasible and the
answer to the agony of so many children, families and nations. The
methods would include creating awareness amongst high risk
communities about the prevalence and the difficulties in management
of this condition. Screening young people amongst all high risk
communities before marriage is the right way to go. If screening is
performed in childhood, it is often forgotten around the time they
get married. Hemoglobin electrophoresis is the confirmatory test to
diagnose thalassemia minor or carrier status. All at-risk couples
need to be counseled about the prenatal diagnosis to confirm the
thalassemic status of the fetus. If the fetus is not affected, the
pregnancy should be continued. If the fetus is affected, the choice
of terminating the pregnancy is offered.
A concerted effort is needed to have a National Thalassemia
Prevention Program in place. This needs involvement of all
government health agencies, scientific research bodies, institutions
caring for thalassemia, parents’ societies, dedicated and committed
social workers along with the medical fraternity to be able to
successfully eradicate thalassemia from the country. With this in
mind Indian Academy of Pediatrics has envisaged Thalassemia
Prevention Program under IAP Vision 2007. A national consultative
meeting is planned this year to formulate the guidelines for an
ideal thalassemia prevention program which will be followed by a
series of advocacy and sensitization meetings in high risk states.
If countries like Cyprus, Sardinia and Greece could achieve, there
is no reason why we cannot achieve the same.
Our Programme will be
conducted in three stages
Prevensation (Awareness Programme)
- Life long
treatment (Blood Transfussion)
Implementation of the project. C.ED. is having a complete
Team of Doctors under its medical
- Land 5
Acres approx at Latehar and 1 Acre Approx at Ranchi.
in health related programme for last 12 years i.e 58 Nos. Blood
Donation camps more then 50 Nos. Health check up camps about 10
tubertomy and vaccitomy operation, several thalassaemia related
seminars and AIDS related seminars/workshops in all over the