Somatic deletion of the normal β-globin gene leading to othalassaemia intermedia in heterozygous β-thalassaemic patients

Renzo Galanello, Lucia Perseu, Chiara Perra, Liliana Maccioni, Susanna Barella, Maurizio Longinotti, Antonio Cao, Mario Cazzola

Research output: Contribution to journalArticlepeer-review

Abstract

Two β-thalassaemia patients, whose constitutive genotype was β 39C39C→T, had the clinical phenotype β-thalassaemia intermedia. Analysis of leucocyte DNA showed the presence of the mutated β 39C→T-gene exclusively, while the normal β 39C-gene was also present in reticulocyte RNA. Deletional analysis of chromosome 11p15.5 on leucocyte DNA showed large deletions including the β-globin gene. Two populations of erythroid progenitors, one heterozygous and the other hemizygous for the β 39C→T mutation, were demonstrated in one case. This confirms that, in heterozygous individuals, β-thalassaemia intermedia may be caused by inactivation of the β-locus in trans as a result of chromosome 11p15.5 deletions in a subpopulation of haematopoietic cells.

Original languageEnglish
Pages (from-to)604-606
Number of pages3
JournalBritish Journal of Haematology
Volume127
Issue number5
DOIs
Publication statusPublished - Dec 2004

Keywords

  • Beta globin
  • Chromosome 11
  • Deletion
  • Somatic mutation
  • Thalassaemia intermedia

ASJC Scopus subject areas

  • Hematology

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