Prenatal diagnosis of beta-thalassaemia and other haemoglobinopathies in India.

This paper reports prenatal diagnosis of 787 fetuses of beta-thalassaemia and other haemoglobinopathies in Indian high-risk communities. DNA based diagnosis was offered in the first, as well as the second trimester, in 489 pregnancies (with five twins) on fetal tissues such as chorionic villus (CV) and amniocytes using the amplification refractory mutation system (ARMS) and restriction fragment length polymorphism (RFLP) techniques. Two hundred and ninety-two women (with one twin), who either presented late in the second trimester or whose DNA diagnosis was not informative, were offered prenatal diagnosis using globin chain synthesis (GCS) on fetal blood cells. Maternal contamination of fetal DNA was ruled out by variable number tandem repeat (VNTR) analysis using sites in four different genes (Apo-B, D1S-80, Ig-JH and Ha-ras), while contamination of fetal blood was checked by a particle size distribution channelyzer. Using both techniques we were able to offer complete diagnosis in 99.8% cases. Out of 494 fetuses tested by DNA analysis, 135 were found to be normal, 201 were carriers, whereas 146 were affected. Out of 293 fetuses analysed by GCS, 215 were unaffected and 71 were affected. In this study, both fetuses were tested in twin pregnancies, of which three required selective termination of one fetus. Because of social, religious taboos and family influences, genetic counselling was found to be an important guideline for couples selecting options for prenatal diagnosis. Our experience suggests that because of late presentation by many couples to the diagnostic centres, in developing countries like India, both the techniques of DNA analysis and GCS should be made available at major referral centres for maximum benefit to couples.

Thalassemia in Bombay: the role of medical genetics in developing countries.

This study of 200 families with thalassaemic children in Bombay showed that these children's treatment and needs place a significant, unavoidable and increasing demand on the public health services. At the same time, owing to the potentially large number of patients and the difficulties of long-term management, the situation is characterized by evasion of the problem, failure of planning, no provisions for prevention, and inadequate treatment leading to premature death among the affected children. The burden on such families is greater in developing than in developed countries because, besides caring for the chronically sick child, their lives are dominated by the high costs of treatment, often amounting to 20-30% of the income for many families. Seven mothers with no healthy children and 27 with only one healthy child had been sterilized; 90% of reproductive-age couples felt that prenatal diagnosis was a necessity. Also, ignorance and prejudice in the community led to social isolation for forty families. The experience in Europe shows that improved treatment is the key step in controlling thalassaemia. A well-organized day-transfusion service is cost-effective, soon restoring the children to health and leading to increased optimism. The formation of associations by parents could mobilize community support for improved treatment and prevention, and increase public awareness of the problem. Thus cost-effective management and prevention through screening, genetic counselling, and prenatal diagnosis are at least as important in the developing as in developed countries.

Thalassaemia in Bombay: The role of medical genetics in developing countries

This study of 200 families with thalassaemic children in Bombay showed that these children's treatment and needs place a significant, unavoidable and increasing demand on the public health services. At the same time, owing to the potentially large number of patients and the difficulties of long-term management, the situation is characterized by evasion of the problem, failure of planing, no provisions for prevention, and inadequate treatment leading to premature death among the affected children. The burden on such families is greater in developing than in developed countries because, besides caring for the chronically sick child, their lives are dominated by the high cost of treatment, often amounting to 20-30 per cent of the income for many families. Seven mothers with no healthy children and 27 with only one healthy child had been sterilized; 90 per cent of reproductive-age couples felt that prenatal diagnosis was a necessity. Also, ignorance and prejudice in the community led to social isolation for the forty families

The experience in Europe shows that improved treatment is the key step in controlling thalassaemia. A well-organized day-transfusion service is cost-effective, soon restoring the children to health and leading to increased optimism. The formulation of associations by parents could mobilize ...(AU)