On the antenatal diagnosis of hemoglobinopathies: the synthesis of abnormal hemoglobin in the fetus

Sickle cell anemia and β thalassemia major are chronic, debilitating anemias with a variable, but often depressing, course. Individuals with β thalassemia may live up to 20 years, requiring multiple transfusions before succumbing of cardiac failure. Although certain individuals with sickle cell anemia may live over 60 years, most patients with this disease have considerable suffering and a shortened life of less than 20 years. Thus, the authors and others have wrestled with the ethical question of whether these diseases are sufficiently serious to warrant antenatal diagnosis and selective abortion. At this time the authors believe that each couple at risk for children with sickle cell anemia or β thalassemia should have the opportunity to make that decision, and that antenatal diagnosis should be an option available to them. Therefore, the authors continue to hope for the speedy development of fetoscopic techniques to safely obtain a small fetal blood sample.