Spectrum of β‐thalassemia mutations in Calabria: Implications for prenatal diagnosis

Using a combination of oligonucleotide probes and restriction endonuclease enzymes, we characterize β‐thalassemic mutations in 91 homozygous patients and 86 unrelated carriers. Overall, 268 β‐thalassemic genes were obtained. Eleven β‐globin mutations were identified, confirming the wide molecular heterogeneity of β‐thalassemia in Calabria. Information from the present study represents the mainstay for the development of a program of early prenatal diagnosis by direct detection of mutations in Calabria.