[Hemoglobinopathies in developing countries]

Abstract

The most important haemoglobinopathies in developing countries are reviewed in the light of new results elicited with modern research approaches. It has been shown that the sickle mutation originating in a localized region in West Africa arose independently of the mutation in East Africa and Asia. The frequency of alpha-thalassaemia has been underestimated in mediterranean and African countries. The inherited resistance to Plasmodium falciparum in the sickle cell disorders and thalassaemia has been elucidated to a large extent. The heterogeneity of alpha- and beta-thalassaemia has been investigated at the molecular level of the globin genes. Clinical management with repeated blood transfusions and regular iron chelation has markedly improved life expectation of the patient with thalassaemia major. Screening and educational programmes on a large scale in combination with facilities for genetic counselling, prenatal diagnosis and therapeutic abortion have already reduced the incidence of serious haemoglobinopathies in several developed countries. However, these methods will not be available for the population of developing areas until these countries reach a generally higher level, both economically and socially.