Control and prevention of the genetic load of haemoglobinopathies in India.

ABSTRACT

Haemoglobinopathies and thalassaemia are inherited disorders which affect a large number of individuals in India. With a population of 950 million and a birth rate of 28 per thousand, it has been estimated that there would be about 42 million carriers and about 12,000 infants born each year will be inheriting a major haemoglobin disorder in India. In view of this heavy genetic load, frequent blood transfusions, high cost of treatment and management, physical trauma, and psychological and mental harassment to the patients and their families, it has been realized that the preventive genetic approach is the most suitable for the Indian setting. After carrier detection, prenatal diagnosis and genetic counselling are important options for couples at high risk for haemoglobinopathies. A prerequisite for a successful prevention and control programme is health education, public awareness and sensitization, and screening of the population for identification of heterozygotes or carriers in the community.