INTRODUCTION

The hereditary disorders of haemoglobin comprise of the Alpha and Beta thalassemias and physical variations of haemoglobin. They are the most prevalent solitary genetic disorders found worldwide with an autosomal recessive trait and it is roughly assessed that about 3,00,000 – 4,00,000 babies are being born every year with a serious haemoglobin disorder. Among the total conceptions, 56,000 conceptions from around the world would suffer from a major thalassemia disorder and amongst them about 30,000 would have Beta thalassemia major, and most babies are from middle and low-income countries. The disease manifests as anaemia and unsuccessful erythropoiesis. The latter denotes a huge accumulation of RBCs that are fading, or growth arrested. This accumulation starts a congregation of complications that comprise of fractures and bone deformities, along with extramedullary erythropoiesis (a state in which the production of red cell happens in the liver or spleen, initiating enlargement of the organs). The patients thus suffer from fatigue and results in a failure to thrive. The sickle cell disorders and the Beta thalassemias pose a noteworthy burden on health in India. The prevalence of Beta thalassemia carriers on an average is 3–4% which interprets to about 35 – 45 million carriers in this linguistically and culturally diverse population of 1.21 billion people who are multi – ethnic, additionally it comprises almost 8% of tribal clusters according to the 2011 Census of India. Some ethnic groups relatively have a considerable higher prevalence (4–17%) compared to others [1].

BURDEN IN INDIA

India was the first non-Mediterranean place where the incidence of thalassemia was first described. In subsequent years, thalassaemia cases were recognized in several parts of India. [2]. The present estimates show that there might be a prevalence of around 1,00,000 people with a Beta thalassemia syndrome and the sickle cell disease comprises around 1,50,000 cases in this giant nation. However, due to the absence of the National Registries of patients, the precise statistics are unknown. It is guesstimated that an alarming 2 million units of packed RBCs would be required for blood transfusion of patients with thalassemia in the nation. The management of patients with Beta thalassemia major is better in the urban areas, with adequate iron chelation along with steady and safe blood transfusions. This provides them an opportunity for improved quality of life. However, as time pass and they become older, multiple disciplinary care might become essential. For patients suffering from

hemoglobinopathies

blood is provided for free and recently even iron chelators are provided in some of the states. Even then, there are supplementary expenditures for processing, testing and leucodepletion. So, most of the patients with these hemoglobinopathies do not receive optimum care. As of date, for Beta thalassemia major patients, allogeneic stem cell transplant remains the only feasible cure. There is more than 90% success rate in patients with low risk factors whereas there is still considerable challenge for patients in high risk category. The expense makes it unaffordable for a vast majority of the families with a thalassemia major child, keeping in mind that India is still a developing country. Thus, initiating a need for a national level intervention via Public Health Policy.

WHAT CAN BE ACHIEVED BY A NATIONAL POLICY ON THALASSEMIA?

This Public Health Policy will help, firstly to create


awareness


among the public about the disorder. In the past 40 years various Institutions in India along with Non-profit organizations such as the Lions Clubs, the Rotary Clubs and several other Non-government organizations and Parents-Patients Thalassemia societies were conducting programmes for awareness and education of the public. Still, cognizance of Beta thalassemia among expectant mothers is very less. The health literacy regarding thalassemia is so poor in some parts of India, that for a questionnaire based study, which took place in 2007, regarding Beta thalassemia midst an extreme risk community, the Aroras in northern part of India hailing from a rustic zone in Rohtak district in Haryana compared to an urban setting in the capital city, New Delhi, exposed that a huge part of those from the rural population had not heard about thalassemia and were superstitious about the reason for the illness, as they thought it depended on the sinful life of the forefathers. Furthermore, more than half of the people belonging to the urban setting were unwilling for Beta thalassemia screening premaritally [4]. This stresses the necessity for more intensive awareness programmes in different parts of the country

Furthermore, it will also guarantee


treatment


for all the patients, regardless of their socio – economic status. The Indian Red Cross Society (IRCS) has a central role in gathering blood donations for treatment of transfusion dependent thalassemias.

Most importantly, with a policy in place, approaches can be developed to


stop its further spread


. The policy should aid in detecting carriers and educating them of the danger, and options for decreasing it, and this frequently lead to a drop in births of affected babies. First, inform the parents of affected kids of their 25% reappearance rate and this information lets them do the family planning. Birth occurrence of thalassaemia can fall by a large margin by this as most at-risk couples will opt for a family with one or two healthy children. [11]

PROPER INTERVENTION

Counselling after both pre and post-test are crucial chiefly for pre – natal diagnosis, to eradicate the illogical worries amid public, mainly in respect of stigmatization. Additionally, it aids people suffering from this and their relatives who are at-risk to bring themselves to accept with the situation and consequences of the disorder. The core of genetic counselling is to spread the awareness among the families of those with the disorder, its symptoms and level of severity along with the relapse risks and the disorder associated mortality level. The counselling must be in primary level understandable language and must include psychological issues, familial history, ethical considerations and differing opinions on cultural and religion and culture [7]. They ought to be provided with all the available choices such as diagnosis prenatally, with an assurance of receiving a healthy baby post intervention. Options for artificial insemination with a non-carrier donor of Beta thalassemia or some other hemoglobinopathy or child adoption options must be provided. Yet, there is a lack for competent counsellors in the nation and this part requests further establishment. Furthermore, all obstetricians should check if the woman is a carrier, and if given a positive response, the partners of carriers should be subsequently tested, and the at-risk couples must be identified. Appointment of auxiliary health staff may help to ease the supplementary work load on the doctors. The screening costs should be wholly covered by the Government under the new National Policy. At least one screening centre should be established per state in a Government hospital.

CHALLENGES

Figure 1

The important challenges faced [figure 1] for the implementation of national thalassemia policy are lack of funds (both state and central), lack of education, the social and cultural factors and lack of experts (obstetrician, geneticist, ultra-sonologist, paediatrician and social workers.)

Lack of funds

: Financial support is necessary for training and appointing the health staff needed for implementation of the national policy. Buying of equipment (DNA diagnostic laboratories) and maintaining confidentiality by having a safe and secure place to store all the patient information need sufficient capital. Along with this, here are some discouraging trends going on for thalassemia research. Recent research capital has decreased precipitously, and the research has come to a standstill. In the developed world there are research going on for gene therapy. The clinical trials in India are currently halted, though India is called thalassemia capital of the world, due to flattened government finances. The government should be made aware of why it is important to forward the

Lack of Experts

:

Training for obstetricians in fetal blood and tissue sampling is currently limited and there is a pressing necessity to have more advanced programmes to keep them UpToDate so that at-risk couples can save long distance travel to benefit from the facilities. The country also lacks competent genetic counsellors who can successfully create awareness among the couples preparing to be parents.

Social, Cultural and Demographic factors :

For the successful implementation of the policy, providing proper care for patients with Beta thalassemia in India where 68.7% of the public reside in rustic areas and countryside, involvement of a vast public health network is essential, to reach each crook of the nation on top of existing infrastructure. A combined venture from the State Governments, NGOs, Central Government, corporate houses and thalassemia societies, ardently supported by political power will hugely influence the effective implementation of a national thalassemia policy. Although some data on the occurrence of the carriers is obtained from selected states, majority of this is based on hospital records and cannot be easily utilisable for the proper estimation of the accurate burden of the disease. The accessible statistics from the regions are still inadequate and numerous ethnic groups are still to be studied. The tremendously capricious prevalence in the geographic areas and presence of increased incidences of carriers in certain societies demonstrates the necessity for micro mapping in each state.

Furthermore, socially, being a thalassaemia minor (carrier) could bring in less marriage proposals (India being a country where arranged marriages are still dominated) due to superstitious beliefs on blood purity, and its relation to continuousness of the lineage, and fear of spread of undesirable traits to forthcoming generations. This fear affects people unreasonably, and the family is not ready to disclose the result of their daughters. The stigma linked with thalassaemia minor is restraining individuals from publicizing their thalassaemia status and even increases the fear of testing. Therefore, the policy should concentrate on the carrier status of the individuals before reproduction, or during the first trimester, so that prenatal diagnosis can be provided for high risk couples.

Lack of education:

The National Health Portal of India now delivers information on thalassemia for both the public and professionals alike. Still, there is a lack of formal education on thalassemia in the high school student curriculum. In an analysis of the details for the efficacious thalassemia prevention programmes in Greece and Cyprus it was determined that the most important phase was implementing thalassemia in the formal education in the student curriculum. Education of the community must be provided through mass media – TV, films and newspapers. The most powerful tool to spread awareness will be mass media and it has been recurrently recommended that a small clip on Beta thalassemia acted by a leading movie personality at prime time shown repeatedly would have a substantial influence on the populace [8].

OPPOSITION

The opposition is foreseen from the government as the initial capital will be high and there will be a fear of failure. To contradict this hypothesis, a detailed research must be done and statistically prove that prevention will be better and cheaper than cure. Back up of political influence is always an advantage and can be achieved by detailed discussion with panel members. As policy decisions are political, The answers come most often from those who are organized to protect their interests, not necessarily from all segments of the population who will be affected by the policies

ADVOCACY

The advocacy should start at an individual level, by social media campaigns and volunteering with thalassemia societies. Friends and family should be made aware of what is advocated for and request their support for helping patients circumnavigate the healthcare system or fighting for access to the best care and treatment. There is a demanding need for passionate people who are dedicated to advocating for optimal treatment and care for the Thalassemia major patients. The advocacy should start off by working to create awareness among the public and urge them to make changes in their societies, groups and beyond. A detailed letter will be written to health minister, detailing about why the national policy for thalassemia is the need of the hour in India after meeting with the local government representative. A significant factor is notifying the policy makers. Furthermore, interviews can be arranged with a journalist to give a wider reach for the campaign. Both locally and nationally, there is a need for promoting awareness by training the local people, as this method will be more effective than an outsider conveying the same message in rural areas. It is of utmost important that patients themselves act as advocates on their own behalf for the treatments and services they need. Advocating for optimal health care helps the patients to empower themselves and help other patients with thalassemia to live well.

People from all walks of life (health experts, journalists, representatives of public welfare groups, literary personalities and government functionaries) should be urged to join the advocacy programme. For better coverage of the disease awareness eminent personalities can give interviews in newspapers and TV channels. Any thalassemia awareness programme should have three core messages, firstly that the carrier state is free from any symptoms and that it is not a disease. Secondly the severity of the thalassemia major and the need to seek medical attention and thirdly that prenatal diagnosis is safe. Carrier screening should be voluntary, and compulsory procedures must be discouraged. Similar interventions in Islamic countries like Iran and Turkey have seen success with a multi-layer agenda incorporated into the primary healthcare delivery system ensuring screening tests for the carrier, genetic counselling and pre-natal diagnosis along with spreading awareness through discussions, seminars and advocacy of school teachers. Organising and implementing campaigns for prevention has already shown a reduction in new registered thalassemia cases in these countries [12].

Citing another example, in Cyprus, a thalassemia prevention programme, initiated in 1973, changed the situation altogether and no baby affected with thalassemia has been born from 2002 in the nation. Similar observations had also been seen in Greece and Italy, where the initial occurrence was 25% [9].

PARTNERSHIP

Partnership with private foundations like Cooley’s Anaemia Foundation are fundamental in patient advocacy and research support for thalassemia. Non-profit organizations such as the Lions Clubs and the Rotary Clubs will help in patient education. Capacity building workshops have recently been conducted in different regions of the country by the Thalassemia International Federation (TIF) to motivate different NGOs and other groups to work together for community control of the thalassemias. Sankalp India Foundation (Bangalore) and Cure2Children (Italy and Jagriti Innovations) has a history of spending for studies on thalassemia in the country [13]. Partnership must also be ensured with the Jai Vigyan programme of the Indian Council of Medical Research on Community Control of thalassemia. Thalassemics India and SRIJAN Publications provides free leaflets on thalassemia awareness. Thalassemia International Federation National Thalassemia Welfare Society – NTWS makes accessible quality education on the same and helps in powerful advocacy.

FUTURE

When a national thalassemia policy is initiated, adequate screening centres with suitable quality control should be established and several skilled auxiliary health staffs and genetic counsellors should be appointed. There has to be a minimum of 1 centre in every state and continued to 2 or 3 centres in larger states. Thalaman, a software has been developed in the recent years, to preserve accounts and to save the results of huge screenings and patient data brought together from various places into a single state database for analysis. This could help in the study of the success of the policy after implementation. Additional day care centres are required for care of the existing Beta thalassemia patients, of whom several of are aging. Stem cell transplantation must be an available option for low risk patients and those who have the funds for the treatment. In the future, transplant programme development in the government hospitals will make it more affordable.  Free medications must be available for the patients and a government reservation for jobs will be a definite advantage.

CONCLUSION

Due to the current absence of a nation – wide strategy to prevent, regulate and deliver satisfactory treatment for the patients, there exists little to no awareness about the nature and cause of the disease. Patient requirement is not limited to free blood transfusion, they also require free lab tests along with iron chelation medications and other supplement medicines, which are quite expensive and unaffordable to a majority of the patients. [3] Therefore the prevention of thalassemia is feasible, practical and prevent the suffering of innocent children, their families and the country. The methods should contain spreading awareness amid communities who are at high risk. The importance of screening should be emphasized. At-risk couples should be counselled about fetal diagnosis to check the thalassemic status of the fetus. For the successful implementation and sustenance of the policy, the scientific research bodies, government health agencies, care homes for thalassemia, committed social workers and societies along with the medical department need to work together to efficaciously eliminate thalassemia from the country. The national thalassemia policy will make the concept of “healthcare for all” more achievable.

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