Hemoglobinopathies Worldwide: Present and Future

David   J.   Weatherall

Abstract

The genetic disorders of hemoglobin, the commonest monogenic diseases, occur at some of their highest frequencies in the developing countries, particularly those of Sub-Saharan Africa and Asia. Although progress towards their control and management continues to be made, the prospects for curing them, apart from marrow transplantation, remain uncertain. In many countries expertise and facilities for their control are extremely limited. Although a great deal can be done to help the situation by developing further North/South and South/South partnerships for disseminating better practice, the major problem for the future lies in the unwillingness of governments and international health agencies to accept that the hemoglobinopathies represent a health burden comparative to that of communicable and other major diseases. However, preliminary analyses suggest that, at least in the case of Asia, this may not be true. Further work of this type, together with more detailed frequency and economic data, is required to provide solid evidence for the health burden posed by the hemoglobin disorders, particularly in the developing world. Unless this is done, the increasingly large populations of patients with these diseases will continue to be neglected.

Keywords: Sickle cell anemia, thalassemia, hemoglobin, natural selection, epidemiological transition, population screening, prenatal diagnosis, health economics