The Union health ministry has come up with a comprehensive set of guidelines to control and prevent hemoglobinopathies or genetic hemoglobin disorders such as thalassemia and sickle cell anaemia in the country. The proposed blueprint aims at reducing the socio-economic burden of these disorders on the patient’s family and the health services.
India currently tops the global chart with about 150,000 children suffering from thalassemia major. According to government data, there are 42 million carriers of thalassemia trait. While an average prevalence rate of 3-4 per cent has been established across the country, a higher frequency has been observed in communities such as Sindhis, Punjabis, Gujaratis, Bengalis, Mahars, Kolis, Saraswats, Lohanas and Gaurs.
An estimated 10,000 -15,000 babies with thalassemia major are born every year. Hb E is the variant hemoglobin that significantly contributes to the disease burden in West Bengal and the North Eastern States. In certain communities in this region, the carrier frequency of Hb E is as high as 50 per cent. The prevalence of sickle cell disease is variable, with very high frequency in many tribal communities. The carrier frequency goes up to 35 per cent in certain regions of central, southern and western states. There are about 25 lakh carriers of the gene Hemoglobin AS, and about 125,000 patients of sickle cell disease.
The national strategy, formulated by a technical committee comprising experts and parent organisation representatives, aims at reducing the birth of affected children through carrier screening and prenatal diagnosis. The measures empower prospective parents to have normal children.
The policy envisages provision of services for patients with hemoglobinopathies through a hierarchical infrastructure by strengthening existing public health facilities. It moots creation of centres with advanced facilities, including a bone marrow transplant unit and a prenatal diagnostic centre. These centres will provide technical support for thalassemia in medical colleges, tertiary care hospitals and primary health centers, as well as impart training to health professionals and caregivers. The policy recommends creation of a hemoglobinopathy unit that can be clubbed with hemophilia wing for logistic purposes in government hospitals to carry out therapy. Therapy can be provided through day care.
Carrier screening is recommended for high school and college students and all pregnant women, 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 an unaffected baby. Premarital and preconception carrier screening should be instituted with appropriate genetic counseling. 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 recommends newborn screening to be initiated in areas of high prevalence. Those detected to have Hb SS or compound heterozygously of Hb S and beta thalassemia will be provided prophylaxis (oral penicillin or erythromycin) with immunisation, especially pneumococcal and Hib vaccine, and followed up carefully for development of any infection.
Treatment consists mainly of giving repeated blood transfusions, bringing with it the challenges of motivating donors to give blood, and avoiding the transmission of infections such as HIV, hepatitis B and C. The excess iron that gets into the body through the blood transfusions needs to be removed by use of the expensive chelators. Bone marrow transplantation as a curative treatment requires an HLA matched donor, specific infrastructure and trained doctors and nurses. Treating sickle cell disease is equally challenging, as the management of pain and vaso-occlusive crises is difficult.
The new policy recommends creation of a web-based application to be housed in the National Health Portal for providing information about the disease, its complications, their management, and the places where different facilities are available. It also recommends 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. The data on carrier screening performed in different regions will be collated to determine the burden of hemoglobinopathies.