[Prevention of hemoglobinopathies in non-endemic countries]

Abstract

Although hemoglobinopathies are primarily found in Africa, India, SouthEast Asia and the Mediterranean area, their distribution is becoming worldwide due to increased migration. Unlike other genetic diseases, carriers can be detected by simple and cost-effective means. Prenatal hemoglobinopathy screening is possible and direct prenatal diagnosis can be offered to couples at risk of giving birth to a child affected by a major defect of the beta-globin chain. Several hemoglobinopathy screening programmes have been organised in various countries of Northern Europe and have been effective in identifying couples at risk.