Feasibility of prenatal diagnosis of beta-thalassaemia with synthetic DNA probes in two Mediterranean populations
Thein SL., Wainscoat JS., Old JM., Sampietro M., Fiorelli G., Wallace RB., Weatherall DJ.
A feasibility study in two Mediterranean populations showed that prenatal diagnosis of beta-thalassaemia with a limited number of synthetic oligonucleotide probes would have been possible in about 70% of cases. To provide a comprehensive programme of prenatal diagnosis for the thalassaemias it would be necessary, in most populations, to combine fetal DNA analysis with fetal blood sampling and globin-chain synthesis studies.