Characterization of a New Polymorphism, IVS-I-108 (T→C), and a New β-Thalassemia Mutation, -27 (A→T), Discovered in the Course of a Prenatal Diagnosis

Abstract

We report two new substitutions, IVS-I-108 (T→C) and -27 (A→T), identified in a couple at risk for β-thaIassemia. One is of Iranian origin and presents with two mutations: a new substitution of T→C at nucleotide IVS-I-108, which is a silent polymorphism, and a previously described β-thalassemia mutation at nucleotide -28 (A→C). The other is from the island of Corsica, the only place in France where β-thalassemia is endemic. He presents a new substitution of A→T at nucleotide -27 in the TATA box, which was also found in several members of his family with the β-thalassemia trait. The fetus was found to have inherited both these novel mutations.