α-Thalassaemia as a result of a novel splice donor site mutation of the α1-globin gene

C. L. Harteveld, C. Beijer, P. Van Delft, R. Zanardini, L. F. Bernini, P. C. Giordano

Research output: Contribution to journalArticlepeer-review

Abstract

We describe the characterization of an α+-thalassaemia determinant as a result of a transition of G→A of the donor splice consensus site sequence of the first intron of the α1-globin gene (α1IVS I-1). The mutation was found in combination with the South-East Asian α0-thalassaemia deletion in an haemoglobin (Hb)H patient and her sister, both of Thai origin. Sequencing of the abnormally spliced mRNA product revealed the presence of a cryptic splice site in exon 1 of the α1-globin gene. No normally spliced α1mRNA was detected. The abnormally spliced mRNA product from the α1-gene carrying the mutation does not lead to functional protein and causes a mild HbH-disease phenotype when in combination with the deletion type α0-thalassaemia.

Original languageEnglish
Pages (from-to)694-698
Number of pages5
JournalBritish Journal of Haematology
Volume110
Issue number3
DOIs
Publication statusPublished - 2000

Keywords

  • α-globin gene
  • α-thalassaemia
  • Haemoglobinopathy
  • HbH disease
  • Splice donor site mutation

ASJC Scopus subject areas

  • Hematology

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