A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia

Haematologica. 2007 Mar;92(3):423-4. doi: 10.3324/haematol.10785.

Abstract

We describe a patient originating from Ghana who had combined heterozygous alpha (4.2)thalassemia, alpha alpha alpha anti3.7 triplication, the common delta globin variant HbA2' and a new 65 bp duplication/insertion in exon II of the b globin gene causing beta (0)-thalassemia.

Publication types

  • Case Reports
  • Letter
  • Review

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Codon / genetics
  • Codon, Terminator
  • Exons / genetics
  • Gene Duplication*
  • Genotype
  • Ghana / ethnology
  • Globins / chemistry
  • Globins / genetics*
  • Hemoglobins / analysis
  • Hemoglobins / genetics
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutagenesis, Insertional*
  • Mutant Proteins / chemistry
  • Mutant Proteins / genetics*
  • alpha-Thalassemia / blood
  • alpha-Thalassemia / genetics*
  • beta-Thalassemia / blood
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • Codon, Terminator
  • Hemoglobins
  • Mutant Proteins
  • Globins