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Thalassemia Free India Now No More A Distant Reality

The new guidelines under the National Health Mission provide an ideal platform to provide a standard charter to incorporate it in policy document for prevention and management of hemoglobinopathies

Photo Credit : PTI

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This may look like fantasy to many. Even successful Indian Mars Mission was an unattainable imagination in year 2010

Ministry of Health and Family Welfare, Government of India, has come out with one of the best comprehensive documents for the prevention and control of Haemoglobinopathies, "Guidelines on Haemoglobinopathies in India". These guidelines are major milestone in the history of Haemoglobinopathies in India developed by exceptional brainpowers in this field

If implemented, it will not only significantly improve the quality and survival of patients with Thalassemia & Sickle Cell in India but also prevent the new birth of children affected with these dreaded disorders.

Hemoglobinopathies are inherited disorders of red blood cells causing immense burden on families and the health sector due to considerable morbidity and mortality. India has the largest number of patients with Thalassemia major in the world – about 1 to 1.5 lakhs and 4% population (50 million persons) carriers of ß (beta) thalassemia trait. About 10,000 - 15,000 babies with thalassemia major are born every year. Sickle cell disease is highly prevalent in tribal populations of Southern, Central and Western states. The carrier frequency of the Sickle cell gene varies from 1 to 40 % in these areas.

Broadly thalassemia is of two types Thalassemia Major (TM), and Thalassemia Minor/carrier or Trait. TM portrays as severe form of anaemia necessitating lifelong blood transfusions and iron chelation. Bone marrow transplantation (BMT) is the only cure but non-availability of a suitable HLA matched donor, inherent high risk of procedure and high cost restricts its practicality. Thus regular safe blood transfusions coupled with adequate iron chelation and regular monitoring is the mainstay of treatment.

In India, the cost of transfusing and chelating a 30 kg child for one year was estimated at Rs. 200,000 for one year in 2008. With an estimated birth of 10,000 children with Thalassemia Major every year, and survival for 50 years, the cost of managing 500,000 children (10,000 births x 50years x Rs.2, 00,000/chid/annum) works out to Rs.10000 crores, and Rs.100 crores even if only 1% were to survive to 50 years of age. Based on the experience of a pilot project funded and implemented under National Health Mission in Uttarakhand, the cost of screening one lakh adolescents was estimated at Rs.1 crore.

Thalassemia minor is the carrier state in which the person is clinically normal and is commonly referred to as β (beta) Thalassemia Trait (BTT). There is a wide spectrum of intermediate state thalassemia intermedia (TI) requiring rarely to occasional blood transfusion and iron chelation. The thalassemia is transmitted by inheritance of abnormal β thalassemia genes from both carrier parents, or abnormal β Thalassemia gene from one parent and an abnormal variant hemoglobin gene (HbE, HbS) from the other parent. HbE is another haemoglobin variant common in the Bengal and North Eastern states with carrier frequency as high as 50%, in some areas

Sickle Cell Disease (SCD) is another hemoglobin disorder that requires lifelong management and contributes to infant and childhood morbidity and mortality. SCD is caused by inheritance of two abnormal Sickle Cell (HbS) genes, one from each parent or HbS gene from one parent and HbE or β thalassemia gene from the other.

Carriers of Thalassemia and Sickle cell carry only one of these abnormal genes and they do not suffer from any disease but may transmit it to the next generation. Carriers cannot be recognized clinically but only through special blood tests. When both partners are ‘carriers’, there is 25% chance of inheriting two normal genes, 50%  inheriting one abnormal gene and one normal gene (BTT or Sickle cell trait) and 25% chance of inheriting two abnormal genes, resulting into a TM, TI, SCD or combination of thalassemia & sickle cell condition

In India, the technology, know-how and the means to adequately treat and control both thalassemia and sickle cell disease are available. The new guidelines under the National Health Mission provide an ideal platform to provide a standard charter to incorporate it in policy document for prevention and management of hemoglobinopathies. Guidelines provide framework for adequate therapy for those affected, helping them lead a near normal life and prevention through carrier screening, genetic counseling and prenatal diagnosis. A newborn screening program has also been outlined for sickle cell disease with provision for appropriate management.

In a cost / benefit analysis done in Israel, cost of treatment of one patient for average life expectancy in Northern Israel was calculated to be $2,000,000 and cost of running a thalassemia control programme for one year was $400,000. Prevention is thus extremely cost effective rather than treatment of those who are affected.

The World Health Organization has clearly outlined the goals for control of hemoglobinopathies - provide affordable and adequate therapy for those affected, while at the same time reduce the number of births of children with the disease through strong political, administrative and financial support. Prevention and control can be achieved based on these principles by implementing following steps:

Adequate transfusion and chelation facilities at every district hospital  

Upgrade all the AIIMS institutes and state medical colleges to deal with complications and perform bone marrow transplants.

Establishment of donor registries and public cord blood banks.

Awareness, education and screening programs in the community and schools.

Establishing facilities for carrier screening for hemoglobinopathies and newborn screening for sickle cell disease at the district level.

Screening pregnant women and their husbands to prevent the birth of children affected with thalassemia major or sickle cell disease.

Establishing prenatal diagnostic centers in Medical Colleges in all States, at least one in each state capital

Engaging parent-patient organizations both at centre and state level in formulating policies for haemoglobinopathies

In Cyprus, in 1974 it was assessed that thalassemia carrier rate was 17% and prevalence of affected births 1:1000. They initiated a prevention program in 1974 with the cooperation of patient-parent organizations and within a decade brought down the birth rate of thalassemia major to almost zero besides providing best treatment to those already affected. Successful voluntary carrier screening programme in Sardinia & Latium, Italy and Montreal, Canada have also brought down the birth of β-thalassemia major to near zero.

“Prevention is better than cure” is evident if we understand the gravity of disease, accept it’s 100% preventable and learn from above examples. Screening all adults between the age group of 18-35 years and effectively implementing prevention & control programme can successfully bring down the birth of children affected with thalassemia major to almost zero within 18 years. This will reduce the burden of disease and enable affected thalassemia major to live a near normal life

 

Some Quotes from senior health officials 

C.K. Mishra, Secretary Ministry of Health & Family Welfare (MoHFW) Govt. of India “The hereditary haemoglobin disorders,……….... are the most commonly encountered single gene disorder in India and impose a heavy economic burden on both the families and on the state resources”.

Dr Arun Panda, Additional Secretary MoHFW Govt. of India “Considering the magnitude of the problem and the cost of implications of management, suitable control measures need to be undertaken urgently”

Manoj Jhalani, Joint Secretary MoHFW Govt. of India              

In our country ……., genetic disorder like Haemoglobinopathy are also emerging as a major national health problem. Prevention of the birth of affected child appears to be the most feasible and cost effective approach for control of this disease. This is feasible through mass screening for silent carriers at schools before marriage and during pregnancy.  “an integrated comprehensive approach is required for both screening and management”.

The time for formulation of an effective national policy for implementation of prevention and control of hemoglobinopathies in India is overdue. If no appropriate action is not taken now it would be impossible to meet the demand of blood and medicines from available resources.

Disclaimer: The views expressed in the article above are those of the authors' and do not necessarily represent or reflect the views of this publishing house. Unless otherwise noted, the author is writing in his/her personal capacity. They are not intended and should not be thought to represent official ideas, attitudes, or policies of any agency or institution.


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Dr JS Arora

He is General secretary, National Thalassemia Welfare Society

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