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The spectrum of β‐thalassaemia mutations in Sicily

To characterize β‐thalassaemia genes among the Sicilian population we have previously determined the DNA haplotypes in the β‐globin gene cluster of 99 β‐thal chromosomes. We found seven haplotypes, although 95 of 99 β‐thal chromosomes contained framework 1 and framework 3 β genes. We have now determined the mutation in all 99 of these β‐thal genes by the use of oligonucleotide hybridization, PCR‐amplification and direct genomic sequencing, and direct restriction analysis. Our results indicate that (1) the β0‐39 mutation is most frequent (35%): (2) β0‐39, IVS‐1 nt 110 and IVS‐1 nt 6 mutations account for 90% of β‐thal genes: (3) the IVS‐1 nt 6 mutation is more frequent in thalassaemia intermedia (77%) than in Cooley's disease (34%): (4) the association between haplotypes and specific mutations is imperfect, but mutation spread has occurred within haplotypes containing the same β‐gene framework: (5) the β0‐39 and the IVS‐1 nt 6 mutations, with a mutation spread to two major haplotypes, may be older than the IVS‐1 nt 110 mutation: (6) these data make possible first‐trimester prenatal diagnosis in many families (85%) in Sicily using only three pairs of oligonucleotides. In addition, a new mutation, a frameshift at codon 76 due to loss of a C residue, was found in a single β‐thal chromosome.