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Screening for beta-thalassaemia

Bashir Mamdani


In Pakistan, the autosomal recessive beta-thalassaemia gene is present in 5% of the population. The estimated birth rate of affected infants is 1.3 per 1,000 live births, and about 5,250 infants with beta-thalassaemia are born annually. A monthly blood transfusion maintains an excellent quality of life during childhood but leads to iron overload and death in adolescence or early adult life. The annual cost of chelation therapy with desferrioxamine, US$ 4,400 per patient, is prohibitive (10 times the average annual income).

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