NEW DELHI: The health ministry has proposed a draft policy suggesting 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 draft policy includes provision of medicines, including iron chelating agents, leukocyte filters and infusion pumps free of cost to the poor patients.

It also envisages provision of services for patients with hemoglobinopathies by strengthening existing public health facilities.

“The policy envisages creation of centres of excellence in states that will have advanced facilities required for comprehensive care of patients with thalassemia/sickle cell disease, including a bone marrow transplant unit and a prenatal diagnostic center,” the draft policy, titled “Policy For Prevention and Control of Hemoglobinopathies – Thalassemia, Sickle Cell Disease and variant Hemoglobins In India”, says.

The draft policy also proposes creation of 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 suggests setting up of a patient registry for thalassemia and sickle cell disease to obtain information on the number of persons affected and the number of carriers to estimate patients who require various services.

The health ministry has sought stakeholder comments on the draft policy by 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 said.

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 will be initiated in areas of high prevalence.

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.

According to the draft note, it is estimated that there are almost 3.6 to 3.9 crore carriers of ß-thalassemia in India, and about 10,000 to 15,000 babies with ß-thalassemia major are born each year. 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.

