De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European

Authors:
Publisher website
Google Scholar
Abstract
We present a case of β‐thalassemia intermedia involving a 13‐year‐old boy of Northern European descent. His mother, father and older sister have normal hematologic indices. Molecular studies demonstrate that the proband carries a novel mutation of the β‐globin gene initiation codon (ATG→AAG) which should give rise to β°‐thalassemia trait. The possibility of non‐paternity was excluded, indicating that the novel mutation was the result of a de novo event. A review of the literature indicates that mutations involving the β‐globin gene initiation codon can give rise to a more severe phenotype than is generally associated with most other β+ or β° mutations. Am. J. Hematol. 56:179–182, 1997.

This publication has 24 references indexed in Scilit: