MANAGEMENT OF PREGNANT-WOMEN FROM COUNTRIES WITH HIGH-RISK SICKLE-CELL DISEASE AND THALASSEMIA

At the present time, about 3.5 million people from Turkey, Greece, Ita ly, the Middle East, Africa and Asia are living in Germany. They are p otential carriers of beta-thalassaemia and haemoglobinopathies such as sickle cell disease. These diseases are new for most of us and repres ent a challenge to physicians, taking care of these patients. Not only do we have to learn about the clinical problems of homozygous patient s and how to handle them, we also have to become aquainted with the pr oblems related to the heterozygous carrier stage. The large number of asymptomatic pregnant carriers of beta-globin anomalies is a particula r challenge for obstetricians. They need to identify carriers through haemoglobin electrophoresis screening, inform the carrier about the me aning of being a carrier, screen the woman's partner, refer for geneti c counselling and suggest and explain prenatal diagnosis in case the p artner is also a carrier. There is as yet no cure for thalassaemia and sickle cell disease, except for bone marrow transplantation in a few selected cases. Therefore, prenatal diagnosis presents a valuable meth od of preventing severe chronic diseases. Screening does not only allo w genetic counselling, the information gained has also clinical implic ations for carriers of beta-thalassaemia. In this paper a summary is g iven of the pathophysiological and clinical features of thalassaemia a nd sickle cell disease and molecular biology methods to diagnose thala ssaemia and sickle cell disease are discussed. In addition, a screenin g programme for pregnant women from countries at risk is suggested to enable physicians to give optimal care and initiate prenatal diagnosis .