Thalassemia Day is marked on 8th May each year as a sign of solidarity
with the many thalassemia patients and families across the world
year marks the 25th International Thalassemia Day to mark the struggles of
patients, families, doctors and researchers who have never given up hope for a cure
- This year the theme is "Thalassaemia past, present and future: Documenting
progress and patients' needs worldwide".
Thalassemia is the world's most common genetic blood
disorder with nearly 7% of the global population carrying an abnormal
hemoglobin gene. Every year nearly 300,000-500,000 children are born with a blood
disorder. Of these 80% are from developing countries. Fifty to hundred
thousand children born in developing countries die due to lack
of access of treatment.
Beta-thalassemia is most commonly found in South Asia with
India being pegged as the "Thalassemia capital." There are 100,000 patients and
nearly 40 million people who carry the disease-causing mutation. Nearly 10,000
babies are born with thalassemia each year of which only 50% survive. In India,
lack of proper public health facility coupled with non-availability of health
insurance for genetic disorders mean that patients and families have to bear
all expenses out-of-pocket. Healthcare costs in thalassemia
care is a major driver of poverty
for patients and families.
‘This year marks the 25th International Thalassemia Day to mark the struggles of patients, families, doctors and researchers who have never given up hope for a cure.’
With the release of the hemoglobinopathies guidelines, the
ministry of health and family welfare along with the national blood cell has
made some provisions for blood transfusions and iron chelating agents to be
given free of cost to all patients in government hospitals across India. It is
hoped that this will reduce the economic burden on families. India also has put
into place a strong prevention programme at all state-run hospitals for
preventive screening of pregnant mothers. Such programmes are vital to prevent
the spread of this life-threatening disease.
"Thalassaemia past, present and future: Documenting progress and patients'
The apex patient organization, Thalassemia International
Federation (TIF) headquartered in Greece develops themes in accordance with
current issues faced by patients and families. The theme for 2018 considers the
past, present and future to look at the progress in treatment and needs of the
patients across the world. Thalassemia treatment and care has come a long way
from unsophisticated blood transfusion medicine to smooth transfusion protocols
with robust cross matching and washing of blood with use of bedside filters.
This theme is relevant for all developing countries like India which have
progressed from high morbidity rates among patients to falling morbidity rates.
In some pockets of the country especially in hinterlands like Jharkhand and
Chhattisgarh, facilities are still very primitive and patients have to travel
several kilometers to access blood facilities. Many patients in such areas
cannot afford iron chelation and often succumb to iron overload. It is
necessary to document such issues to solve the problems in future.
Patients and families across the world have benefited from improved treatment and care. From progress in oral iron
chelators to MRI
determine iron accumulation in vital organs, improved facilities have not only
improved quality of lives, but also enabled patients to
contribute as worthy members of society. Thalassemia patients across the world
are getting a good education, seeking employment in all sectors and playing an
active role in advocacy and activism for a better life for people with
International Thalassemia Day #ITD2018 is a platform for all
patients, families, doctors, researchers, advocacy groups and patient groups to
reflect on the gains and losses in thalassemia and work towards strengthening
the care system. Thanks to advocacy and activism in healthcare especially for genetic disorders
like thalassemia, governments
across the world have woken up and developed policies and programmes for
prevention, control and treatment. It is time to build on these existing gains
and look to a better future which includes a final curative which is gene
therapy and gene editing.
Researchers propelled by patient groups, families and
communities have not given up the search for a permanent cure for thalassemia
and this has paid off. Gene therapy is on the path towards becoming a reality
soon with clinical stage biotech company Bluebird Bio taking the lead in
clinical research and studies in replacing the defective globin gene with a
normal copy of the hemoglobin producing gene. The research involved 22 patients
who were treated with this therapy who have remained transfusion free after the
treatment. This treatment will be a game changer for thalassemia and
drastically transform the lives of patients.
Gene editing is also a reality as CRISPR has gone into
clinical trials this year to correct the defective globin gene. This is a
simpler mechanism of just correcting the mutation and holds great promise as a
While the cure is still some time away, it is important for
patients and families to remember that staying healthy and keeping fit is
vital. In this context, developing countries like India need to work on
improving the care system to ensure best facilities for treatment. Thalassemia
is a huge economic burden not just to patients and families, but
also the nation and it is important to provide the right treatment at the right
time to ensure that patients lead normal, productive lives. With the right
intervention, thalassemia patients can contribute positively to the economy and
- International Thalassaemia Day 2018 - (http://thalassaemia.org.cy/news/international-thalassaemia-day-2018/)
- Thomas N. Williams, and David J. Weatherall."World distribution, population genetics, and health burden of the hemoglobinopathies", Cold Spring Harbor perspectives in medicine (2012) Sep; 2(9): a011692. doi: 10.1101/cshperspect.a011692