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 beta(0)-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.

Compound heterozygosity for a rare small deletion and a common point mutation in the beta‐globin gene: report of two Chinese families

“…However, our report differs from the previous report in two ways: we performed a family study based on multiple samples; and the carriers and patient showed an elevated level of HbF, which was not observed in the previous case. Ropero et al, 2008), whereas deletions in exon 3 generally lead to a modified C-terminal sequence and to an elongated translation products (Thein, 1992;Lacan et al, 2007). Therefore, this type of mutation usually causes a frameshift in the coding sequence and is classified as b 0 -thalassemia.…”

“…, 2002; Ropero et al. , 2008), whereas deletions in exon 3 generally lead to a modified C‐terminal sequence and to an elongated translation products (Thein, 1992; Lacan et al. , 2007).…”