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Health Ministry Pushes For Genetic Test For Pregnant Women

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Megha Thadani
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The Ministry of Health and Family Welfare has drafted a policy advising compulsory genetic screening of all pregnant women. It aims to prevent inherited disorders such as thalassemia and sickle cell anaemia.

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It also proposes properly placing advanced facilities for comprehensive care of such patients. The draft policy advocates provision of medicines like iron chelating agents, leukocyte filters and infusion pumps free of cost to poor patients.

About the Policy Draft

The draft is titled, 'Policy For Prevention and Control of Hemoglobinopathies - Thalassemia, Sickle Cell Disease and variant Hemoglobins In India'.

"The policy envisages creation of centres of excellence in states that will have advanced facilities required for comprehensive care for patients with thalassemia/sickle cell disease, including bone marrow transplant unit and a prenatal diagnostic center," says the draft.

The draft note is available on the health ministry's official website. It is open to comments and suggestions from various stakeholders, till 30th August.

As per the policy for prevention, the focus should be on creating awareness of these disorders. We should prepare 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."

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Draft Policy Suggestions

The draft has suggested 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 proposes setting up of a patient registry for thalassemia and sickle cell disease. This will help obtain information on the number of persons affected. It will also help to determine the number of carriers to estimate patients who require various services.

The draft read, "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."

As per the draft policy, all subjects screened would be given a card indicating their status. The indications would show whether it is normal, carrier or diseased through systems of colour-coding.

In case of sickle cell disease, the policy suggests to initiate newborn screening in areas of high prevalence.

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Numbers Speak

The draft estimates that in India there are almost 3.6 to 3.9 crore carriers of thalassemia. Additionally, around 10,000 to 15,000 babies with thalassemia major are born each year.

Furthermore, for sickle cell disease, there are about 25,00,000 carriers of the gene (Hemoglobin AS). About 1,25,000 people suffer from sickle cell disease.

The policy stated, "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 has also advised to create centres of excellence in states. These centres will have advanced facilities required for comprehensive care of patients with thalassemia and sickle cell disease. These will also include a bone marrow transplant unit and a prenatal diagnostic centre.

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The centres of excellence will provide technical support for thalassemia in medical colleges. They will also impart training to the health professionals.

Read Also: Indian Women And The Expectations Of Being A Culinary Genius

Megha Thadani is an Intern with Shethepeople.tv

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