World Thalassemia Day 2018

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.

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.

Theme 2018: “Thalassaemia past, present and future: Documenting progress and patients’ needs worldwide”

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 diagnostics to 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 thalassemia.

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.

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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 therapeutic cure.

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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 nation.

References:

1. International Thalassaemia Day 2018 - (http://thalassaemia.org.cy/news/international-thalassaemia-day-2018/)
2. 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

Source-Medindia