Image used for representation only

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. It proposes comprehensive care, including provision of medicines like iron chelating agents, leukocyte filters and infusion pumps free of cost to the poor patients.

"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 policy also proposes creation of haemoglobinopathy (a hereditary condition involving abnormality of haemoglobin) unit in government medical colleges and facilities 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 (red blood cell disorder) to carry information on the number of persons affected and the number of carriers to have an estimate of patients who require treatment.

The health ministry has sought stakeholder comments on the draft policy by August 30.

"For women identified to be carriers, their husbands will be screened and in couples where both partners are carriers, prenatal diagnosis will be offered to ensure that they have a baby unaffected with a clinically significant haemoglobinopathy," the draft said.

For sickle cell disease, it suggests screening of newborns in areas of high prevalence.

Thalassemia and sickle cell diseases are two common genetic disorders that are chronic, life-restricting and require long and specialised treatment. They cause severe distress and financial loss to the patient’s 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 (Haemoglobin AS), and about 1,25,000 patients of sickle cell disease.

