The use of restriction endonucleases in the prenatal diagnosis of hemoglobinopathies

Enzymes which fragment DNA at specific sites have been used to prenatally detect sickle cell anemia, alpha-thalassemia, and beta-thalassemia from amniotic fluid aspirates. Within the last few years, the use of combined restriction endonuclease systems (EcoRI and HindIII) for the antenatal detection of sickle cell anemia was found to provide an exact diagnosis of sickle cell status in 80% of couples at risk. Similar systems have been developed for homozygous alpha- and beta-thalassemia. Clinical applications of this technique and future implications are discussed.