Lessons from thalassaemia screening in Iran

Most of the recent advances in medical genetics have been in basic science and technology. Experience of translating these into effective, population based interventions is limited, but the potential is great, especially for lower resource countries.1 2 This is well illustrated by the experience of the national thalassaemia screening programme in Iran (p 1134), a comprehensive, primary care based programme for screening and genetic counselling. Since the programme's inception in 1996 premarital screening of 2.7 million couples has been carried out over five years, followed by genetic counselling of more than 10 000 couples who were found to be positive. This has resulted in a 70% reduction in the expected annual birth rate of affected infants.3 For a vast, lower-resource country with a population of 68 million, this is a considerable achievement.

As low and middle income countries undergo demographic and epidemiological transition and infant mortality falls below 50/1000 live births, congenital disorders become increasingly visible and costly, contributing up to 30% of infant mortality in countries in the eastern Mediterranean region. Sickle cell disease and thalassaemia are a natural “point of entry” to genetics services for many such countries.2 The thalassaemias are prevalent in the countries of the eastern Mediterranean region, South Asia, and South East Asia (figure). Thalassaemia major results in profound anaemia and death in infancy …