Two New β⁰-Thalassemic Mutations: A Deletion (−CC) at Codon 142 or Overlapping Codons 142-143, and an Insertion (+T) at Codon 45 or Overlapping Codons 44-45/45-46 of the β-Globin Gene

Abstract

We report here two new β⁰-thalassemic mutations. In the first case, a deletion of two nucleotides (−CC) at codon 142 was found in a French Caucasian woman. In the second case, an insertion of a single nucleotide (+T) at codon 45 was found in a Turkish girl. In both cases, no dominant thalassemia-like phenotype was observed.

Keywords:

• Hemoglobin (Hb)
• β-Thalassemia (thal)
• Frameshift
• Nonsense mutation