Two Novel P-Thalassemia Mutations in the 5 ’ and 3 ’ Noncoding Regions of the f3-Globin Gene

Two novel pthalassemia mutations are described. The first mutation, found in an Italian family, is a G+A substitution in nucleotide (nt) +22 relative to the B-globin gene Cap site. This mutation creates a cryptic ATG initiation codon, the utilization of which for translation would result in premature termination 36 bp 3 ’ downstream. The second mutation, HE P-THALASSEMIAS are hereditary disorders due T to mutations in the P-globin gene on chromosome 11, leading to either decreased or absent P-globin chain synthe-sis. The most common genetic defects in P-thalassemias are due to point mutations or mutations involving small dele-tions or insertions in the @-globin gene. More than 100 such naturally occurring mutations are known. ’ The characteriza-tion of these mutations is essential for performing the prenatal diagnosis of fetuses at risk. Furthermore, they provide additional insight into the identification or confir