DE-NOVO MUTATION OF THE BETA-GLOBIN GENE INITIATION CODON (ATG-]AAG) IN A NORTHERN EUROPEAN BOY

We present a case of beta-thalassemia intermedia involving a 13-year-o ld boy of Northern European descent, His mother, father and older sist er have normal hematologic indices, Molecular studies demonstrate that the proband carries a novel mutation of the beta-globin gene initiati on codon (ATG-->AAG) which should give rise to beta degrees-thalassemi a trait, The possibility of non-paternity was excluded, indicating tha t the novel mutation was the result of a de novo event, A review of th e literature indicates that mutations involving the beta-globin gene i nitiation codon can give rise to a more severe phenotype than is gener ally associated with most other beta(+) or beta degrees mutations. (C) 1997 Wiley-Liss, Inc.