Detection of a rare beta-globin nonsense mutation [codon 59 (AAG-->TAG)] in an Italian family

Hemoglobin. 2006;30(3):405-7. doi: 10.1080/03630260600755948.

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 beta0-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 beta-thal carriers of the beta-globin nonsense mutation [codon 59 (AAG-->TAG)] (the proband and his father) showed the hematological picture of a beta0-thal trait: the only hematological difference between the two beta-thal carriers was in the Hb F level (3.3% in the proband and 1% in his father).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Codon, Nonsense / genetics*
  • Female
  • Fetal Hemoglobin / genetics
  • Globins / genetics*
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA / methods
  • beta-Thalassemia / blood
  • beta-Thalassemia / genetics*

Substances

  • Codon, Nonsense
  • Globins
  • Fetal Hemoglobin