Detection of a rare β-globin nonsense mutation [Codon 59 (AAG→TAG)] in an Italian family

Antonio Amato, Maria Pia Cappabianca, Donatella Ponzini, Paola Di Biagio, Alessia Colosimo, Valentina Guida, Fabrizio Mastropietro, Enrica Foglietta, Paola Grisanti, Silvana Rinaldi, Bruno Dallapiccola, Ida Bianco

Research output: Contribution to journalArticlepeer-review

Abstract

In this study we report on the hematological and molecular findings of a family from Central Italy, whose 33-year-old male proband presented with a β 0 -thalassemia (thal) trait associated to a relevant Hb F level. The proband and his family (parents and a sister) were investigated by hematological analysis. The two β-thal carriers of the β-globin nonsense mutation [codon 59 ( A AG→ T AG)] (the proband and his father) showed the hematological picture of a β 0 -thal trait: the only hematological difference between the two β-thal carriers was in the Hb F level (3.3% in the proband and 1% in his father).

Original languageEnglish
Pages (from-to)405-407
Number of pages3
JournalHemoglobin
Volume30
Issue number3
DOIs
Publication statusPublished - Sep 1 2006

Keywords

  • (AT) T Motif
  • -158 (C→T) γ Polymorphism
  • Nonsense mutation at codon 59
  • Polymorphic hypersensitive 2 (HS-2) site

ASJC Scopus subject areas

  • Hematology
  • Biochemistry

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