The Centre has prepared a draft policy proposing compulsory genetic screening of all pregnant women to prevent inherited disorders such as thalassemia and sickle cell anaemia, along with putting in place advanced facilities for comprehensive care of such patients.
The policy advocates for provision of medicines, including iron chelating agents, leukocyte filters and infusion pumps free of cost to the poor patients.
In line with ‘Make in India’ initiative, the draft policy also advocates for promotion of manufacture of the equipment and chemicals in the country and “waiver of GST and custom duties to reduce cost of treatment for the affected families”.
Titled “Policy For Prevention and Control of Hemoglobinopathies, Thalassemia, Sickle Cell Disease and variant Hemoglobins In India”, the draft note has been put up on the website of the health ministry seeking comments and suggestions from various stakeholders till August 30.
The policy recognises that for prevention, the focus should be on creating awareness of these disorders in the community for better acceptance of carrier screening.
“This is recommended for all pregnant mothers, based on automated red cell counts with confirmation by HPLC analysis for Hb A2 and other hemoglobin variants.
“For women identified to be carriers, their husbands will be screened and in couples where both the partners are carriers, prenatal diagnosis will be offered to ensure that they have a baby unaffected with a clinically significant hemoglobinopathy,” the draft read.
Carrier screening could also be undertaken for high school and college students.
As per the draft policy, all subjects screened would be given a card indicating their status, whether normal, carrier or diseased through systems of colour-coding.
For sickle cell disease, policy recommended newborn screening to be initiated in areas of high prevalence.
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“Thalassemia and sickle cell diseases are two common genetic disorders that are chronic, life-restricting and require long and specialized treatment. They cause severe distress and financial loss to the family and are a great drain on the health resources of the country.
“With the fall in infant mortality rate due to control of communicable and nutritional disorders in the last decade in India, these disorders have become important causes of morbidity and mortality,” the draft policy stated.
According to the draft note, it is estimated that there are almost 3.6 to 3.9 crore carriers of thalassemia in India, and about 10,000 to 15,000 babies with thalassemia major are born each year.
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For sickle cell disease there are about 25,00,000 carriers of the gene (Hemoglobin AS), and about 1,25,000 patients of sickle cell disease.
The draft policy has proposed creating of centres of excellence in states that will have advanced facilities required for comprehensive care of patients with thalassemia and sickle cell disease, including a bone marrow transplant unit and a prenatal diagnostic centre.
The centres of excellence will provide technical support for thalassemia in medical colleges, tertiary care hospitals, district level health facilities and primary health centres, as well as impart training to the health professionals.
The draft note has recommended creation of a hemoglobinopathy unit in government medical colleges, tertiary care facilities as well as in district level hospitals to carry out therapy as well as preventive activities.
It also recommended setting up of a patient registry for thalassemia and sickle cell diseases to obtain information on the number of persons affected and the number of carriers to estimate patients who require various services.