Direct carrier detection and prenatal diagnosis of Sicilian and Spanish (δβ)°-thalassemias

Abstract

We describe a direct method for detection of the Spanish and Sicilian (δβ)°-thalassemias. This method is based on the use of the deletion-junction sequences to design specific PCR primers. It permits a rapid screening of heterozygotes in populations at risk and provides a useful tool for early prenatal diagnosis of these forms of thalassemia.