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.

Etiology of childhood hypothyroidism.

This study prospective without any selection bias included 80 of the 152 hypothyroid infants and children seen over the past six years. The clinical diagnosis was confirmed by TSH and thyroid hormone (T3, T4) studies. Scanning for thyroid with TC99m pertechnetate was carried out in all except seven older children with grade II and III goiters where 131I uptake studies were done. Serum thyroglobulin (RIA) was estimated and antithyroglobulin and antimicrosomal antibodies were tested. Based on thyroid 131I scan or 131I uptake, 52.5% had no demonstrable thyroid tissue except one with hypoplasia (Group I, n = 42), 25% had ectopic thyroid (Group II, n = 20), and 22.5% had normal or enlarged thyroid gland (Group III, n = 18). One hypothyroid patient of Group III had thyroiditis with high antibody titre and one was proved to have iodine deficiency). The mean age at time of diagnosis was lowest in Group I (age in months--30.3 +/- 36.2; 60.6 +/- 53.9; 106.2 +/- 69.3 in Groups I, II and III respectively. The intergroup differences in age were significant. The mean serum Tg levels increased progressively from Groups I to III. In the present series thyroid dysgenesis led to hypothyroidism in 77.5%, with athyreosis in 52.5% and ectopia in 25%. Dyshormonogenesis was noted in 20% and thyroiditis in 1.5%.